|
|
| Line 1: |
Line 1: |
| {| class="wikitable" | | {| border="3" |
| ! rowspan="2" style="background: #4479BA; width: 100px;" | {{fontcolor|#FFF|Amyloisosis subtype}} | | |+ |
| ! rowspan="2" style="background: #4479BA; width: 100px;" | {{fontcolor|#FFF|Protein}} | | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Lipomatous tumor}} |
| ! colspan="3" style="background: #4479BA; width: 100px;" | {{fontcolor|#FFF|Organ involvement (%)}} | | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Age of onset}} |
| | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Clinical features}} |
| | ! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Diagnostic feature(s)}} |
| | ! style="background: #4479BA; width: 150px;"|{{fontcolor|#FFF| Other features}} |
| |- | | |- |
| ! style="background: #4479BA; width: 100px;" | {{fontcolor|#FFF|Kidney}} | | ! style="padding: 5px 5px; background: #DCDCDC; " align="left" |Angiomyolipoma |
| ! style="background: #4479BA; width: 100px;" | {{fontcolor|#FFF|Liver}}
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| ! style="background: #4479BA; width: 100px;" | {{fontcolor|#FFF|Heart}}
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Primary
| |
| |Monoclonal immunoglobulin light chains
| |
| |50-100
| |
| |10-25
| |
| |50-100
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Secondary
| |
| |Serum amyloid A
| |
| |50-100
| |
| |<10
| |
| |_
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |DRA (dialysis related amyloidosis) | |
| |Beta‐2 microglobulin
| |
| |_
| |
| |_
| |
| |_
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Senile systemic (cardiac) amyloidosis
| |
| |Transthyretin (wild type)
| |
| |_
| |
| |_
| |
| |50-100
| |
| |-
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Meretoja syndrome
| |
| |Gelsolin
| |
| |_
| |
| |_
| |
| |_
| |
| |}
| |
| | |
| {{familytree/start |summary=Sample 1}}
| |
| {{familytree | | | | | E04 | | | | |E04=[[Infection]]/[[Inflammation]]}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | E05 | | | | |E05=Increased production of [[IL-1]]/[[IL-6]]/[[TNF-α]]}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | C05 | | | | |C05=Upregulation of [[hepatic]] serum amyloid A production}}
| |
| {{familytree | | | | | |!| | | | | | }}
| |
| {{familytree | | | | | C04 | | | | |C04=SAA production uptake by [[macrophages]]}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | D05 | | | | |D05=C-terminal cleavage of SAA}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | F01 | | | | |F01=β-sheet configuration of SAA}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | G05 | | | | |G05=Fibril deposition in [[extracellular space]]}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | H05 | | | | |H05=Binding of [[glycosaminoglycan]], serum amyloid P, and [[lipid]] components}}
| |
| {{familytree | | | | | |!| | | | }}
| |
| {{familytree | | | | | K05 | | | | |K05=Resistant to proteolysis}}
| |
| {|
| |
| ! colspan="2" style="background:#DCDCDC;" align="center" + |The above algorithm is adopted from International Journal of Nephrology and Renovascular Disease
| |
| |-
| |
| |} | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
|
| |
|
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
|
| |
|
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
|
| |
|
| | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | |
| {| class="wikitable"
| |
| |+
| |
| | colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |'''Associated Conditions'''
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Conditions'''
| |
| |'''Examples'''
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Chronic infections'''
| |
| |
| |
| *[[Tuberculosis]]
| |
| *[[Leprosy]]
| |
| *Whipple Disease
| |
| *[[Osteomyelitis]]
| |
| *[[Chronic pyelonephritis]]
| |
| *[[Subacute bacterial endocarditis]]
| |
| *Chronic cutaneous ulcers
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Monogenic [[Periodic fever syndrome|periodic fever syndromes]]'''
| |
| |<br />
| |
| *[[TNF receptor associated periodic syndrome|TNF Receptor associated periodic syndrome]] ([[TRAPS]])
| |
| *[[CAPS|Cryopyrin-associated periodic fever syndrome]]
| |
| *[[Mevalonate kinase deficiency]]
| |
| *[[Familial mediterranean fever]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Conditions predisposing to recurrent infections''' | |
| |
| |
| *[[Cystic fibrosis]]
| |
| *[[Bronchiectasis]]
| |
| *[[Kartagener syndrome]]
| |
| *[[Epidermolysis bullosa]]
| |
| *[[IV drug abusers|Injected drug abuse]]
| |
| *[[Jejuno-ileal bypass]]
| |
| *[[Paraplegia]]
| |
| *[[Sickle cell anemia]]
| |
| *[[Immunodeficiency]]
| |
| *[[Common variable immunodeficiency]]
| |
| *[[Cyclic neutropenia]]
| |
| *[[Hyperimmunoglobulin M syndrome]]
| |
| *[[Hypogammaglobulinemia]]
| |
| *[[X-linked agammaglobulinemia|Sex-linked agammaglobulinemia]]
| |
| *[[Human Immunodeficiency Virus|Human immunodeficiency virus]]/[[AIDS]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Neoplasia'''
| |
| |
| |
| *[[Adenocarcinoma]]
| |
| *[[Basal cell carcinoma]]
| |
| *[[Carcinoid tumors|Carcinoid tumor]]
| |
| *[[Castleman disease]]
| |
| *[[Gastrointestinal stromal tumor]]
| |
| *[[Hairy cell leukemia]]
| |
| *[[Hepatic adenoma]]
| |
| *[[Hodgkin disease]]
| |
| *[[Mesothelioma]]
| |
| *[[Renal cell carcinoma]]
| |
| *[[Sarcoma]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Inflammatory Arthritis'''
| |
| |
| |
| *Adult-onset Still disease
| |
| *[[Ankylosing spondylitis]]
| |
| *[[Juvenile idiopathic arthritis]]
| |
| *[[Psoriatic arthropathy]]
| |
| *[[Reiter's syndrome|Reiter syndrome]]
| |
| *[[Rheumatoid arthritis]]
| |
| *[[Gout]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Systemic [[Vasculitis]]'''
| |
| |
| |
| *Antineutrophil cytoplasmic antibody-associated vasculitis
| |
| *[[Behcet disease]]
| |
| *[[Giant cell arteritis]]
| |
| *[[Polyarteritis nodosa]]
| |
| *[[Polymyalgia rheumatica]]
| |
| *[[Systemic lupus erythematosus]]
| |
| *[[Takayasu arteritis]]
| |
| *[[Inflammatory Bowel Disease]]
| |
| *[[Ulcerative colitis]]
| |
| *[[Crohn disease]]
| |
| |-
| |
| | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Others'''
| |
| |
| |
| *[[Atrial myxoma]]
| |
| *Inflammatory abdominal aortic aneurism
| |
| *[[Retroperitoneal fibrosis]]
| |
| *[[SAPHO syndrome|SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome]]
| |
| *[[Sarcoidosis]]
| |
| *[[Sinus histiocytosis with massive lymphadenopathy]]
| |
| |-
| |
| |+
| |
| | |
| |- | | |- |
| |+ | | ! style="padding: 5px 5px; background: #DCDCDC; " align="left" | |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | *[[Infancy]], but may be delayed until adulthood |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | * Non-pruritic [[Urticaria|urticarial rash]] |
| | *[[Fever]] |
| | *[[Headache]] |
| | *[[Fatigue]] |
| | *[[Conjunctivitis]] |
|
| |
|
| | <br /> |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | * Ice cube test is negative |
| | * |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | * Cold-induced [[rash]] |
| | *[[Skin biopsy]] shows increased [[Neutrophil|neutrophils]] at the eccrine coils |
| |- | | |- |
| | ! style="padding: 5px 5px; background: #DCDCDC; " align="left" |Schnitzler Syndrome<ref name="de KoningBodar2007">{{cite journal|last1=de Koning|first1=Heleen D.|last2=Bodar|first2=Evelien J.|last3=van der Meer|first3=Jos W.M.|last4=Simon|first4=Anna|title=Schnitzler Syndrome: Beyond the Case Reports: Review and Follow-Up of 94 Patients with an Emphasis on Prognosis and Treatment|journal=Seminars in Arthritis and Rheumatism|volume=37|issue=3|year=2007|pages=137–148|issn=00490172|doi=10.1016/j.semarthrit.2007.04.001}}</ref> |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | *[[Middle age]] |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | * Chronic [[Urticaria|urticarial]] rash |
| | *[[Fever]] |
| | *[[Arthralgia]] |
| | *[[Bone pain]] |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | *[[Monoclonal gammopathy]] |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | *[[Rash]] is the presenting sign |
| | *[[Neutrophil|Neutrophillic]] infiltrate in [[dermis]] |
| | *[[Dermographism]] |
| |- | | |- |
| |}
| | ! style="padding: 5px 5px; background: #DCDCDC; " align="left" |Deficiency in Interleukin-1 Receptor Antagonist<ref name="AksentijevichMasters2009">{{cite journal|last1=Aksentijevich|first1=Ivona|last2=Masters|first2=Seth L.|last3=Ferguson|first3=Polly J.|last4=Dancey|first4=Paul|last5=Frenkel|first5=Joost|last6=van Royen-Kerkhoff|first6=Annet|last7=Laxer|first7=Ron|last8=Tedgård|first8=Ulf|last9=Cowen|first9=Edward W.|last10=Pham|first10=Tuyet-Hang|last11=Booty|first11=Matthew|last12=Estes|first12=Jacob D.|last13=Sandler|first13=Netanya G.|last14=Plass|first14=Nicole|last15=Stone|first15=Deborah L.|last16=Turner|first16=Maria L.|last17=Hill|first17=Suvimol|last18=Butman|first18=John A.|last19=Schneider|first19=Rayfel|last20=Babyn|first20=Paul|last21=El-Shanti|first21=Hatem I.|last22=Pope|first22=Elena|last23=Barron|first23=Karyl|last24=Bing|first24=Xinyu|last25=Laurence|first25=Arian|last26=Lee|first26=Chyi-Chia R.|last27=Chapelle|first27=Dawn|last28=Clarke|first28=Gillian I.|last29=Ohson|first29=Kamal|last30=Nicholson|first30=Marc|last31=Gadina|first31=Massimo|last32=Yang|first32=Barbara|last33=Korman|first33=Benjamin D.|last34=Gregersen|first34=Peter K.|last35=van Hagen|first35=P. Martin|last36=Hak|first36=A. Elisabeth|last37=Huizing|first37=Marjan|last38=Rahman|first38=Proton|last39=Douek|first39=Daniel C.|last40=Remmers|first40=Elaine F.|last41=Kastner|first41=Daniel L.|last42=Goldbach-Mansky|first42=Raphaela|title=An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist|journal=New England Journal of Medicine|volume=360|issue=23|year=2009|pages=2426–2437|issn=0028-4793|doi=10.1056/NEJMoa0807865}}</ref> |
| {| class="wikitable"
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Organ System Involvement}} | |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Causes}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Clinical Features}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Laboratory Findings}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Gold Standard Test}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Therapy}}
| |
| |- | |
| | rowspan="9" |'''Nephrotic Syndrome and Renal Failure''' | |
| |'''[[Secondary (AA) Amyloidosis]]''' | |
| | | |
| * Chronic [[inflammatory disorders]]
| |
| * Chronic [[infections]]
| |
| | | |
| * [[Periorbital edema]]
| |
| * [[Lower extremity edema]]
| |
| * [[Signs]]/[[symptoms]] of underlying inflammatory disorder
| |
| | | |
| * Proteinuria
| |
| * Elevated level of [[acute phase reactant]] due to underlying inflammatory condition
| |
| | | |
| * Biopsy and congo-red staining of the sample
| |
| | | |
| * Treatment of the undelying [[iflammatory disorder]]
| |
| |- | |
| |'''[[Primary (AL) Amyloidosis]]''' | |
| | | |
| * [[Monoclonal]] [[plasma cell]] proliferation
| |
| * Extracellular [[amyloid]] [[fibril]] deposition
| |
| | | |
| * [[Anasarca]]
| |
| * [[Bleeding tendency]]
| |
| * Swelling of [[lower limbs]]
| |
| * Frothy [[urine]]
| |
| * [[Chest pain]]
| |
| * [[Numbness]] or [[tingling]]
| |
| * [[Early satiety]]
| |
| * [[Joint pains]]
| |
| * [[Macroglossia|Enlarged tongue]]
| |
| * [[Taste loss]]
| |
| * [[Hoarseness|Hoarseness of voice]]
| |
| * [[Alopecia|Hair loss]]
| |
| | | |
| * Increased [[erythrocyte sedimentation rate]] ([[ESR]])
| |
| * Increased [[Alanine aminotransferase|alanine aminotrasnferase]] ([[Alanine transaminase|ALT]]) and [[Aspartate aminotransferase|aspartate aminotrasnferase]] ([[Aspartate transaminase|AST]])
| |
| * Increased [[Cardiac troponin I (cTnI) and T (cTnT)|cardiac troponins]]
| |
| * Increased [[brain natriuretic peptide]] ([[BNP]])
| |
| * Increased [[blood urea nitrogen]] ([[BUN]]) and [[creatinine]]
| |
| * [[Proteinuria]]
| |
| * Urinary [[Hyaline cast|hyaline]] and fatty casts
| |
| * [[Hypercholesterolemia]]
| |
| | |
| | |
| | | |
| * Biopsy:
| |
| ** Diffuse glomerular deposition of amorphous [[hyaline]] material (nodular pattern - 8 to15 nm in diameter), in [[mesangium]] (weakly staining with [[Periodic acid-Schiff stain|periodic acid-Schiff]] ([[Periodic acid-Schiff stain|PAS]])
| |
| |
| |
| * [[Melphalan]]-[[prednisone]]/[[dexamethasone]]
| |
| * [[Dexamethasone]] plus [[Cyclophosphamide]]-[[thalidomide]]
| |
| * [[Stem cell transplantation]]
| |
| * [[Kidney transplantation]]
| |
| |-
| |
| |'''[[Diabetic nephropathy|Diabetic Nephropathy]]'''
| |
| |
| |
| * Hyperfiltration
| |
| * Constriction of [[efferent arteriole]]
| |
| * [[Microalbuminuria]]
| |
| * [[Mesangial cell|Mesangial]] proliferation
| |
| |
| |
| * [[Nocturia]]
| |
| * [[Fatigue]]
| |
| * [[Pruritis]]
| |
| * [[Peripheral edema]]
| |
| |
| |
| * [[Hyperglycemia]] (random plasma glucose ≥200 mg/dL)
| |
| * [[Proteinuria]]
| |
| * [[Glucosuria]]
| |
| * [[Glycosylated hemoglobin|HbA1C]] ≥6.5% (48 mmol/mol).<br />
| |
| | | |
| * Biopsy:
| |
| ** [[Periodic acid-Schiff stain|PAS]] positive [[Kimmelstiel-Wilson syndrome|Kimmelstiel-Wilson nodules]]
| |
| ** [[Glomerulosclerosis]]
| |
| | | |
| * [[ACE inhibitor|ACE inhibitors]]
| |
| * [[Angiotensin receptor blockers]]
| |
| * [[Glycemic]] control
| |
| |- | |
| |'''[[Minimal change disease|Minimal Change Disease]]''' | |
| | | |
| * [[Upper respiratory tract infection]]
| |
| * [[Allergy]] to bee sting
| |
| * [[Non-steroidal anti-inflammatory drug|NSAID]]
| |
| * [[Gold]]
| |
| * [[Penicillamine]]
| |
| * [[Ampicillin]]
| |
| * [[Mercury (element)|Mercury]]
| |
| * [[Hodgkin's lymphoma|Hodgkin's]] and [[Non-Hodgkin lymphoma|non-Hodgkin's lymphoma]]
| |
| | | |
| * [[Peripheral edema]]
| |
| * [[Hypertension]]
| |
| * [[Peripheral edema]]
| |
| | | |
| * [[Proteinuria]]
| |
| * [[Hypertension]]
| |
| * [[Hyperlipidemia]]
| |
| * [[Hypoalbuminemia]]
| |
| * [[Microscopic hematuria]]
| |
| | | |
| * Biopsy:
| |
| ** Fused [[podocytes]]/effacement
| |
| |
| |
| * [[Prednisone]] with taper
| |
| * [[ACE inhibitor|ACE inhibitors]]
| |
| * [[Angiotensin receptor blockers]]
| |
| * Salt restriction
| |
| |- | |
| |'''[[Focal segmental glomerulosclerosis|Focal Segmental Glomerulosclerosis]]''' | |
| | | |
| * [[HIV]]
| |
| * [[Parvovirus B19]]
| |
| * [[Cytomegalovirus]]
| |
| * [[Heroin]]
| |
| * [[Interferon alpha]]
| |
| * [[Lithium]]
| |
| * [[Pamidronate]]/aledronate
| |
| * [[Anabolic steroids]]
| |
| * [[Diabetes mellitus]]
| |
| * [[Hypertension]]
| |
| * [[Obesity]]
| |
| * [[Congenital heart disease cyanotic|Cyanotic congenital heart disease]]
| |
| * [[Sickle cell anemia]]
| |
| | | |
| * [[Peripheral edema]]
| |
| * [[Hypertension]]
| |
| * [[Peripheral edema]]
| |
| | | |
| * [[Proteinuria]]
| |
| * [[Hypertension]]
| |
| * [[Hyperlipidemia]]
| |
| * [[Hypoalbuminemia]]
| |
| * [[Microscopic hematuria]]
| |
| | | |
| * Biopsy:
| |
| ** [[Podocytes|Podocyte]] foot process effacement
| |
| ** [[Capillary]] lumen abolished by the segmental increase in matrix<br />
| |
| | | |
| * [[Prednisone]]
| |
| * [[Calcineurin inhibitor|Calcineurin inhibitors]] ([[Cyclosporine|Cyclosporin]], [[tacrolimus]])
| |
| * [[Rituximab]]
| |
| * [[Cyclophosphamide]]/[[chlorambucil]]
| |
| * [[Mycophenolate|Mycophenolate motefil]]
| |
| |- | |
| |'''[[Fabry's disease|Fabry's Disease]]''' | |
| | | |
| * Deficient alpha galactosidase A
| |
| | | |
| * [[Abdominal pain]]
| |
| * [[Arthralgia]]
| |
| * [[Febrile]] episodes
| |
| * [[Angiokeratomas]]
| |
| * Burning pain and tingling ([[Peripheral neuropathy|peripheral neuropathy)]]
| |
| * [[Hypohidrosis]]
| |
| * [[X-linked recessive]] inheritance
| |
| | | |
| * Deficient alpha galactosidase A
| |
| * Increased ceramide trihexoside ([[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]])
| |
| |
| |
| * Alpha-galactosidase A activity
| |
| * [[GLA|GLA gene]] analysis for [[Heterozygote|heterozygotes]]
| |
| | | |
| * Enzyme replacement therapy
| |
| * [[ACE inhibitor|ACE inhibitors]]
| |
| * [[Gabapentin]], [[carbamazepine]]
| |
| * [[Migalastat]]
| |
| |- | |
| |'''Light Chain Deposition Disease''' | |
| |
| |
| * [[Multiple myeloma]]
| |
| * [[Waldenström's macroglobulinemia]]
| |
| * [[Monoclonal gammopathy of undetermined significance]]
| |
| |
| |
| * [[Asymptomatic]]
| |
| * [[Fatigue]]
| |
| * [[Weight loss]]
| |
| * [[Dyspnea]]
| |
| * [[Peripheral edema]]
| |
| |
| |
| * [[Proteinuria]]
| |
| * [[Portal hypertension]]
| |
| * Increased [[Alanine transaminase|ALT]], [[Aspartate transaminase|AST]]
| |
| |
| |
| * Biopsy:
| |
| ** Non-amyloid granules
| |
| |
| |
| * [[Bortezomib]]
| |
| * Autologous [[stem cell transplantation]]
| |
| * Immunomodulatory drugs
| |
| * [[Kidney transplantation|Kidney transplant]]
| |
| |-
| |
| |'''[[Membranous glomerulonephritis|Membranous Glomerulonephritis]]'''
| |
| |
| |
| * [[Hepatitis B]] and [[Hepatitis C|C]]
| |
| * [[HIV]]
| |
| * [[Non-Hodgkin lymphoma|Non-Hodgkin`s lymphoma]]
| |
| * [[Chronic lymphocytic leukemia]]
| |
| * [[Hodgkin lymphoma|Hodgkin`s lymphoma]]
| |
| * Solid tissue tumors
| |
| * [[Schistosomiasis]]
| |
| * [[Leprosy]]
| |
| * [[Hydatid disease]]
| |
| * [[Loaiasis]] (filaria)
| |
| * [[Malaria|Quartan malaria]]
| |
| * [[Systemic lupus erythematosis]] ([[SLE]])<br />
| |
| | | |
| * [[Headache]]
| |
| * [[Edema]] affecting any area of the body
| |
| * Foamy appearance of urine
| |
| * [[Weight gain]]
| |
| * [[Poor appetite]]
| |
| * [[Nocturia]]
| |
| * [[Fatigue]]
| |
| * [[Hematuria]]
| |
| |
| |
| * [[Proteinuria]]
| |
| * [[Hypertension]]
| |
| * [[Hyperlipidemia]]
| |
| * [[Hypoalbuminemia]]
| |
| * Microscopic or gross hematuria
| |
| * [[Hypoalbuminemia]]
| |
| * [[Antinuclear antibodies|ANA]] and [[Anti-dsDNA antibody|anti-dsDNA]] positivity
| |
| | | |
| * Biopsy:
| |
| ** [[Immunoglobulin G|IgG]] and [[C3 (complement)|C3]] deposits with thickened [[basement membrane]] with spikes and vacuolization
| |
| ** [[Glomerulosclerosis]]
| |
| |
| |
| * [[Prednisone]]
| |
| * [[Methylprednisolone]] with [[cyclophosphamide]]
| |
| * [[Tacrolimus]] with a six-month taper
| |
| * [[Rituximab]]
| |
| |-
| |
| |'''Fibrillary-Immunotactoid Glomerulopathy'''
| |
| |
| |
| * [[Idiopathic]]
| |
| * [[Hepatitis C]]
| |
| |
| |
| * Microscopic or [[Hematuria|gross hematuria]]
| |
| |
| |
| * [[Proteinuria]]
| |
| * [[Hypertension]]
| |
| * Increased [[blood urea nitrogen]] ([[Blood urea nitrogen|BUN]]) and [[creatinine]]
| |
| |
| |
| * Biopsy:
| |
| ** Polycloncal [[Immunoglobulin G|IgG]] deposits
| |
| ** Infiltration of glomerular structures by amorphous acellular material (nonbranching fibrils 12-24nm in diameter)
| |
| ** Ig heavy-chain and one light-chain subclass
| |
| |
| |
| |- | |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Organ System Involvement}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Causes}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Clinical Features}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Laboratory Findings}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Gold Standard Test}}
| |
| ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Therapy}}
| |
| |-
| |
| | rowspan="6" |'''Polyneuropathy'''
| |
| |'''[[POEMS syndrome]] (Demyelinating)'''
| |
| |
| |
| * [[Monoclonal]] [[plasma cell]] proliferation
| |
| * [[Cytokine]] storm ([[IL-1]], [[Interleukin 6|IL-6]], [[Interleukin 12|IL-12]], [[TNF alpha]], [[VEGF]])
| |
| |
| |
| * Symmetrical, ascending chronic progressive [[polyneuropathy]] with both [[Sensory system|sensory]] (pin-prick and vibration) and [[Motor skill|motor]] disability ([[Motor skill|motor]] > [[sensory]])
| |
| * Generalized/extermity [[pain]]
| |
| * [[Areflexia]]
| |
| |
| |
| * Increased number of [[Platelet|thrombocytes]]
| |
| * Increased number of [[Red blood cell|erythrocytes]]
| |
| * Elevated [[Cerebrospinal fluid|cerebrospinal fluid (CSF)]] [[protein]] content
| |
| * Increased number of [[White blood cells|leukocytes]]
| |
| * High levels of [[Immunoglobulin G|IgG]] lambda or [[Immunoglobulin A|IgA]] lambda [[M protein|M-protein]] in the [[serum]]
| |
| * Increased number of [[Plasma cell|plasma cells]] in the [[bone marrow]]
| |
| * Increased serum [[Vascular endothelial growth factor|VEGF]] level
| |
| * Elevated levels of antitiroglobulin [[antibody]] and antithyroid peroxydase [[antibody]]
| |
| |
| |
| * [[POEMS syndrome diagnostic criteria|International Myeloma Working Group (IMWG) clinical and laboratory diagnostic criteria]]
| |
| |
| |
| |-
| |
| |'''[[Metabolic syndrome|Metabolic Syndrome]] (Axonal pathology)'''
| |
| |
| |
| * [[Diabetes mellitus]]
| |
| |
| |
| * Symmetric sensorimotor distal polyneuropathy
| |
| * Asymmetric proximal neuropathy
| |
| * [[Oculomotor nerve palsy|3rd nerve palsy]]
| |
| * [[Carpal tunnel syndrome|Carpel tunnel syndrome]]
| |
| * [[Autonomic neuropathy]]
| |
| * "Glove and stocking" type pain
| |
| * [[Muscle wasting]]
| |
| * [[Hammer toe|Hammer toes]]
| |
| * [[Polyuria]]
| |
| * [[Polydipsia]]
| |
| |
| |
| * Uncontrolled [[hyperglycemia]]
| |
| * Slowed [[Nerve conduction study|nerve conduction]]
| |
| * [[Small fiber peripheral neuropathy|Small fiber dysfunction]]
| |
| * [[Monofilament|Monofilament testing]]
| |
| |
| |
| * [[Fasting blood sugar|Fasting blood sugar level]] greater than equal to 126 mg/dl on 2 separate occasions
| |
| |
| |
| * [[Diabetes mellitus medical therapy|Anti-diabetic therapy]]
| |
| * [[Gabapentin]]
| |
| * [[Carbamazepine]]
| |
| * [[Foot care]]
| |
| |-
| |
| |'''[[Vitamin deficiencies|Vitamin Deficiencies]] (Axonal Pathology)'''
| |
| |
| |
| * [[Vitamin B12 deficiency]] (Decreased [[S-Adenosyl methionine|S-adenosyl methionine]])
| |
| * [[Thiamine deficiency|Vitamin B1 deficiency]]
| |
| |
| |
| * Primarily [[sensory]] deficits
| |
| * Vibration and [[proprioception]] affected
| |
| * [[Gait abnormality|Gait abnormalities]]
| |
| * [[Cognitive impairment]]
| |
| * [[Irritability]]
| |
| * [[Glossitis]]
| |
| | |
| | |
| |
| |
| * [[Anemia]] ([[Megaloblastic Anemias|megaloblastic]] in case of [[Vitamin B12 deficiency|B12 deficiency]])
| |
| * Decreased [[serum]] [[Vitamin B12]] levels (< 200 pg/ml)
| |
| * [[Methylmalonic acidemia|Elevated methylmalonic acid]]
| |
| |
| |
| * [[Serum]] [[Vitamin B12]] levels
| |
| * [[Methylmalonic acid|Methylmalonic acid levels]]
| |
| * [[Intrinsic factor|Intrinsic factor antibodies]]
| |
|
| |
|
| | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | | | *[[Infancy]] |
| * [[Vitamin B12]] supplement ([[parenteral]]) | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | *[[Pustular rash]] |
| | *[[Bone pain]] |
| | * Swollen [[joints]] |
| | *[[Aphthous ulcers]] |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | * Occurs due to [[mutation]] in IL1RN [[gene]] |
| | *[[Pustular rash]] similar to [[pustular psoriasis]] |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | *[[Epidermal]] [[Neutrophil|neutrophilic]] [[pustules]] at [[hair follicles]] |
| | * Pathergy |
| | *[[Hyperkeratosis]] and acanthosis |
| | * High [[neutrophil]] infiltrate of the [[dermis]] |
| |- | | |- |
| |'''[[Guillain-Barré syndrome|Guillain-Barre Syndrome]] (Demyelinating)''' | | !style="padding: 5px 5px; background: #DCDCDC; " align="left" |Systemic-Onset Juvenile Idiopathic Arthritis<ref name="GurionLehman2012">{{cite journal|last1=Gurion|first1=R.|last2=Lehman|first2=T. J. A.|last3=Moorthy|first3=L. N.|title=Systemic Arthritis in Children: A Review of Clinical Presentation and Treatment|journal=International Journal of Inflammation|volume=2012|year=2012|pages=1–16|issn=2090-8040|doi=10.1155/2012/271569}}</ref> |
| | | |
| * [[Anti-ganglioside antibodies|Anti-ganglioside]] and anti-[[myelin]] antibodies
| |
| * [[Viral]] infections:
| |
| ** [[Epstein Barr virus]]
| |
| ** [[Human Immunodeficiency Virus (HIV)|HIV]]
| |
| ** [[Cytomegalovirus]]
| |
| ** [[Varicella Zoster Virus|Varicella Zoster virus]]
| |
| * [[Bacterial]] infections:
| |
| ** [[Campylobacter]] infection
| |
| ** [[Mycoplasma pneumoniae]]
| |
| | | |
| * Rapid onset and quick progression
| |
| * Progression stops after 2-3 weeks
| |
| * Bilateral ascending [[Paraesthesia|paraesthesias]] and [[paralysis]] (generalized)
| |
| * [[Muscle weakness|Weakness]]
| |
| * [[Ataxia]]
| |
| * [[Areflexia]]
| |
| * No fever
| |
| * 4 sub-types:
| |
| ** [[Acute inflammatory demyelinating polyneuropathy]]
| |
| ** [[Acute motor axonal neuropathy]]
| |
| ** Acute motor and sensory axonal neuropathy
| |
| ** [[Miller Fisher syndrome]]
| |
| | | |
| * Delayed F waves
| |
| | | |
| * Clinical diagnostic criteria (progressive weakness of more than two [[limbs]], [[areflexia]], and progression for no more than four weeks)
| |
| | | |
| * [[Intravenous]] [[immunoglobulins]]
| |
| * [[Plasma]] exchange
| |
| * [[Mechanical ventilation|Respiratory support]]
| |
| * [[DVT]]/[[PE]] [[prevention]]
| |
| |- | |
| |'''[[Chronic inflammatory demyelinating polyneuropathy|Chronic Inflammatory Demyelinating Polyneuropathy]] (CIDP) (Mixed axonal and demyelinatiing)''' | |
| |
| |
| * Abnormal [[immune response]] (both [[Immunoglobulin G|IgG]] based [[Humoral immunity|humoral]] and [[Cell mediated immunity|T-Cell mediated]]) response to unknown [[antigen]] (possible culprits include [[myelin]] [[proteins]] P0, P2 and PMP22)
| |
|
| |
|
| | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | | | * 2-16 years of age |
| * Slow onset and gradual progression | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| * [[Relapse|Relapsing]] and remitting course
| | * High [[fever]] |
| * Symmetrical [[Proximal muscle weakness|proximal]] and [[Distal muscle weakness|distal motor]] and [[Sensory system|sensory weakness]] (legs>arms) | | *[[Arthralgia]] |
| * [[Foot drop]] | | *[[Generalized lymphadenopathy]] |
| * [[Numbness]], [[tingling]] and [[pain]] | | *[[Splenomegaly]] |
| * [[Areflexia]] | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | | | * Evanescent [[rash]] |
| * Elevated [[CSF]] [[protein]] ([[oligoclonal bands]] with normal [[White blood cells|WBCs]]) | | *Bright salmon-pink |
| * Slowed [[Nerve conduction study|motor nerve conduction velocities]] | | * Morbilliform, [[macular]] [[rash]] |
| * Prolonged distal [[Motor skill|motor]] latencies (period between F wave and initial stimulation) | | *[[Rash]] presents with onset of [[fever]] |
| * Delayed F wave latencies (recorded from the [[feet]], hence called "F" waves)
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| * [[MRI]] contrast enhancement and enlargement of [[Vertebra|T2]] [[spinal segments]] | | * May cause [[amyloidosis]] |
| | | |
| * EFNS/PNS criteria
| |
| * Koski criteria
| |
| | | |
| * [[Corticosteroids]] | |
| * [[Intravenous immunoglobulin]] ([[IVIG]])
| |
| * [[Immunosupressive drug|Immunosupressants]] ([[Alemtuzumab|Alemtuzemab]] [[Azathioprine]] [[Cyclophosphamide]] [[Cyclosporine|Cyclosporin]] [[Etanercept]] [[Interferon-alpha]])
| |
| |- | | |- |
| |'''[[Multifocal motor neuropathy|Multifocal Motor Neuropathy]]'''
| | !style="padding: 5px 5px; background: #DCDCDC; " align="left" |Adult-Onset Still’s Disease<ref name="Efthimiou2006">{{cite journal|last1=Efthimiou|first1=P|title=Diagnosis and management of adult onset Still's disease|journal=Annals of the Rheumatic Diseases|volume=65|issue=5|year=2006|pages=564–572|issn=0003-4967|doi=10.1136/ard.2005.042143}}</ref> |
| |
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| * [[Immune response|Abnormal immune response]] ([[Anti-ganglioside antibodies|Anti ganglioside]] [[Anti-ganglioside antibodies|GM-1]] [[IgM]] [[antibodies]])
| | * 16-35 years |
| |
| | * May affect all ages |
| * Progressive, asymmetric, distal and upper [[Limb (anatomy)|limb]] predominant weakness
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| * No significant [[sensory]] abnormalities
| | * High spiking [[fever]] |
| * [[Areflexia]]
| | *[[Joint pain]] |
| |
| | *[[Skin rash]] |
| * Elevated [[CSF]] [[protein]]
| | *[[Lymphadenopathy]] |
| |
| | *[[Splenomegaly]] |
| * Clinical criteria (EFNS/PNS):
| | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| ** Slowly progressive or step-wise progressive, focal, asymmetric [[limb]] weakness; i.e., [[Motor skill|motor]] involvement in the [[motor nerve]] distribution of at least two nerves for > 1 month.
| | * Evanescent salmon-colored bumpy [[rash]] |
| ** No objective [[Sensory system|sensory]] abnormalities except for minor vibration sense abnormalities in the [[lower limbs]]
| | *[[Itch|Pruritic]] [[rash]] on the [[proximal]] limbs and [[trunk]] |
| | | | style="padding: 5px 5px; background: #F5F5F5;" align="left" | |
| | | * More commonly seen among women |
| |
| | * May cause destructive [[arthritis]] |
| * [[Intravenous immunoglobulin|Intravenous immunoglobulins]]
| |
| * [[Cyclophosphamide]]
| |
| * [[Rituximab]]
| |
| |-
| |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Organ System Involvement'''}}
| |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Differential Diagnosis'''}}
| |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Causes'''}} | |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Features'''}} | |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Laboratory Findings'''}} | |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Gold Standard Test'''}}
| |
| | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Therapy'''}} | |
| |-
| |
| | rowspan="7" |'''Organomegaly (Hepatosplenomegaly and Lymphadenopathy)'''
| |
| |'''[[Malaria]]'''
| |
| |
| |
| * [[Plasmodium falciparum]]
| |
| * [[Plasmodium ovale|P. ovale]]
| |
| * [[P. malariae]]
| |
| * [[Plasmodium knowlesi|P. knowlesi]]
| |
| | | |
| * Tertian ([[Plasmodium vivax|vivax]], [[Plasmodium ovale|ovale]], [[Plasmodium falciparum|falciparum]]), quartan (malariae), quotidian fever ([[Plasmodium knowlesi|knowlesi]]) | |
| * [[Vector]] is female [[Anopheles]] mosquito | |
| * [[Hepatosplenomegaly]] | |
| * [[Lymphadenopathy]] | |
| * [[Jaundice]] | |
| * [[Icterus (medicine)|Icterus]]
| |
| * [[Tachycardia]]
| |
| * [[Tachypnea]]
| |
| * [[Productive cough]]
| |
| * [[Hematuria]]
| |
| * [[Altered mental status]]
| |
| |
| |
| * [[Microcytic anemia]]
| |
| * [[Malaria differential diagnosis|Thick and thin blood films]] ([[Giemsa stain|Giemsa staining]])
| |
| | |
| * Rapid diagnostic test ([[antigen]] detection
| |
| * [[Polymerase chain reaction]] ([[Polymerase chain reaction|PCR]])
| |
| * [[Enzyme linked immunosorbent assay (ELISA)|Enzyme linked immunosorbent assay]] ([[Enzyme linked immunosorbent assay (ELISA)|ELISA]])
| |
| |
| |
| * [[Malaria differential diagnosis|Thick and thin films]]
| |
| |
| |
| * Non-[[Plasmodium falciparum|falciparum]] species:
| |
| ** [[Chloroquine]] (in susceptible)
| |
| ** [[Artemisinin]] plus [[Mefloquine|mefloquin]] or [[lumefantrine]] (in [[chloroquine]] resistant)
| |
| * [[Plasmodium falciparum|Falciparum]] species:
| |
| ** [[Chloroquine]] (in susceptible)
| |
| ** [[Artemether]] plus [[lumefantrine]] (in [[Chloroquine|chloroquin]] resistant) OR
| |
| ** [[Artesunate]] plus [[Mefloquine|mefloquin]] OR
| |
| ** [[Artesunate]] plus [[Sulfadoxine|sulfadoxine-pyrimethamine]]
| |
| ** [[Atovaquone-Proguanil|Atovaquone plus proguanil]] | |
| |-
| |
| |'''[[Kala-azar]]'''
| |
| |
| |
| * [[Leishmaniasis|Leshmania donovani]] | |
| * L. infantum
| |
| * L. chagasi
| |
| | |
| | |
| |
| |
| * [[Fever]]
| |
| * Vector is [[sandfly]]
| |
| * [[Hepatosplenomegaly]]
| |
| * [[Lymphadenopathy]]
| |
| * [[Hyperpigmentation]]
| |
| |
| |
| * [[Anemia]]
| |
| * [[Direct agglutination test]] (DAT)
| |
| * rk39 dipstick
| |
| * [[Enzyme linked immunosorbent assay (ELISA)|ELISA]]
| |
| |
| |
| * [[Splenic]] aspiration
| |
| |
| |
| * [[Liposomal amphotericin B]]
| |
| * [[Sodium stibogluconate]]
| |
| * [[Pentamidine]]
| |
| |-
| |
| |'''[[Hepatitis|Infective Hepatitis]]'''
| |
| |
| |
| * [[Hepatitis A virus|Hepatitis A virus (HAV)]]
| |
| * [[HBV]]
| |
| * [[Hepatitis C|HCV]]
| |
| * [[Hepatitis D|HDV]] (co-infection with [[HBV]])
| |
| * [[Hepatitis E|HEV]]
| |
| |
| |
| * [[Fever]]
| |
| * Transmitted via [[fecal-oral route]] ([[Hepatitis A|HAV]], [[Hepatitis B virus|HBV]], [[HDV]], [[HEV]]), infected sera ([[HCV]]), [[sexual contact]] with infected individuals
| |
| * [[Hepatosplenomegaly]] (may become shrunken in cases of [[cirrhosis]] due to chronic infection)
| |
| * [[Lymphadenopathy]]
| |
| * [[Jaundice]]
| |
| * [[Palmar erythema]]
| |
| * [[Spider angiomata]]
| |
| * [[Gynecomastia]]
| |
| * [[Arthritis-dermatitis syndrome]]
| |
| |
| |
| * [[Antigen]] and [[antibody]] detection
| |
| * Total and direct [[bilirubin]] (increased)
| |
| * Severe disease is often associated with persistent [[bilirubin]] levels >340 mmol/L
| |
| * [[ALT]] and [[AST]] (increased)
| |
| * [[Alkaline phosphatase]] (normal or mildly elevated)
| |
| * [[Prothrombin time]] (prolonged from synthetic defect, caused by hepatocellular [[necrosis]])
| |
| * [[Total protein]] (decreased)
| |
| * [[Globulin]] (mildly elevated)
| |
| * Initial [[lymphopenia]] and [[neutropenia]], followed by relative [[lymphocytosis]]
| |
| * [[Anemia|Low hemoglobin]]
| |
| |
| |
| * [[Antigen]] and [[antibody]] detection
| |
| |
| |
| * [[Interferon]] ([[IFN]])
| |
| | |
| * [[Antivirals|Nucleoside analogs]]
| |
| | |
| * [[Antivirals|Nucleotide analogs]]
| |
| |-
| |
| |'''[[Chronic myelogenous leukemia|Chronic Myelogenous Leukemia]] (CML)'''
| |
| |
| |
| * [[Philadelphia chromosome|BCR/ABL gene]] fusion product due to [[Chromosomal translocation|translocation]] [[mutation]] [[Philadelphia chromosome|t(9;22)]](q34;q11)
| |
| |
| |
| * [[Fever]]
| |
| * [[Weight loss]]
| |
| * [[Hepatosplenomegaly]]
| |
| * [[Lymphadenopathy]]
| |
| | |
| * [[Bruises]]
| |
| * [[Petechiae]]
| |
| * [[Ulcers]]
| |
| * [[Vesicles]]
| |
| * [[Malaise]]
| |
| * [[Early satiety]]
| |
| |
| |
| * [[Anemia]]
| |
| | |
| * [[Leukocytosis]] (median of 100,000/µL) with a [[left shift]]
| |
| * [[Thrombocytosis]]
| |
| * [[Blast|Blasts]] usually <2%
| |
| * Absolute [[basophilia]]
| |
| * Absolute [[eosinophilia]]
| |
| * [[Monocytosis]]
| |
| * [[Thrombocytosis]]
| |
| * [[Thrombocytopenia]] suggests an alternative diagnosis or the presence of advanced stage
| |
| * Elevated [[uric acid]]
| |
| * Elevated [[histamine]] levels
| |
| |
| |
| * [[Fluorescence in situ hybridization|Fluoroscent insitu hybridization (FISH)]]
| |
| |
| |
| * [[Imatinib]]
| |
| * [[Dasatinib]]
| |
| * [[Nilotinib]]
| |
| * [[Bosutinib]]
| |
| * [[Ponatinib]]
| |
| | |
| * [[Cytarabine]]
| |
| * [[Cytarabine|HDAC]] (high-dose [[cytarabine]])
| |
| * [[Hydroxyurea]]
| |
| * [[Busulfan]]
| |
| * [[Busulfex]]
| |
| * [[Stem cell transplantation]]
| |
| |-
| |
| |'''[[Lymphoma]]'''
| |
| | | |
| * Various causes based on type: | |
| ** [[Hodgkin's lymphoma|Hodgkin's]]
| |
| ** [[Non-Hodgkin lymphoma|Non-Hodgkin's]]
| |
| |
| |
| * [[Fever]]
| |
| * [[Weight loss]]
| |
| * [[Lymphadenopathy]]
| |
| * [[Hepatosplenomegaly]]
| |
| * [[Night sweats]], constant [[fatigue]]
| |
| * Purplish scaly rash in cases of [[cutaneous lymphoma]]
| |
| |
| |
| * [[Erythrocyte sedimentation rate|Elevated ESR]]
| |
| * [[C-reactive protein|Increased CRP]]
| |
| * [[Lactate dehydrogenase|Increased LDH]]
| |
| * [[Anemia of chronic disease]]
| |
| |
| |
| * [[Lymph node biopsy]]
| |
| |
| |
| |-
| |
| |'''[[Primary amyloidosis|Primary (AL) Amyloidosis]]'''
| |
| |
| |
| * Aggregation and deposition of [[immunoglobulin light chains]] that are usually produced by [[plasma cell]] clones
| |
| |
| |
| * [[Nephrotic syndrome]] ([[peripheral edema]])
| |
| * [[Restrictive cardiomyopathy]] ([[fatigue]], [[dyspnea]], [[syncope]])
| |
| * [[Peripheral neuropathy]] ([[numbness]], [[tingling]])
| |
| * [[Hepatomegaly]] with elevated [[liver enzymes]]
| |
| * [[Macroglossia]]
| |
| * [[Purpura]]
| |
| * [[Bleeding diathesis]]
| |
| |
| |
| * Typical green birefringence under polarized light after Congo red staining (appears in red under normal light)
| |
| |
| |
| * Congo red staining
| |
| |
| |
| * Melphalan-prednisone/dexamethasone
| |
| * Dexamethasone plus Cyclophosphamide-thalidomide
| |
| * Stem cell transplantation
| |
| |-
| |
| |'''[[Gaucher's disease|Gaucher's Disease]]'''
| |
| |
| |
| * [[GBA (gene)|GBA gene]] [[mutation]]
| |
| * Aberrant metabolism of [[glucocerebroside]] ([[lipid]])
| |
| |
| |
| * [[Hydrops fetalis]]
| |
| * Dry, scaly skin ([[ichthyosis]]) or other [[skin]] abnormalities
| |
| * [[Hepatosplenomegaly]]
| |
| * Distinctive facial features
| |
| * [[Neurological disorder|Neurological problems]]
| |
| * [[Gall stones]]
| |
| * [[Growth retardation]]
| |
| |
| |
| * [[Hypocholesterolemia]]
| |
| * [[Splenic]] nodules
| |
| * [[Cytopenias]] (especially [[thrombocytopenia]])
| |
| * Increased [[ferritin]] levels
| |
| * Increased tartarate resistant acid phosphatase (TRAP) levels
| |
| |
| |
| * Enzyme assay for [[glucocerebrosidase]]
| |
| * [[DNA|DNA analysis]] for [[GBA (gene)|GBA mutation]]
| |
| |
| |
| * [[Enzyme replacement therapy|Enzyme replacement]]
| |
| * [[Splenectomy]]
| |
| * [[Blood transfusion]] | |
| |} | | |} |
|
| |
|
| |
|
| |
|
|
| |
|
