Familial Hematuria & Hereditary Nephritis: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
Line 20: Line 20:
***Alport Syndrome
***Alport Syndrome
***Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) (OMIM # 611773)
***Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) (OMIM # 611773)
**Hereditary Disorders of Laminin:
**Hereditary Disorders of Laminin:
***Pierson Syndrome
***Pierson Syndrome
**Nail-Patella Syndrome
 
**Hereditary Disorder of Gene regulation
***Nail-Patella Syndrome
**Hereditary Disorders of cytoskeletal protein non-muscle myosin heavy chain IIA
**Hereditary Disorders of cytoskeletal protein non-muscle myosin heavy chain IIA
***Epstein Syndrome
***Epstein Syndrome

Revision as of 17:09, 13 January 2017

WikiDoc Resources for Familial Hematuria & Hereditary Nephritis

Articles

Most recent articles on Familial Hematuria & Hereditary Nephritis

Most cited articles on Familial Hematuria & Hereditary Nephritis

Review articles on Familial Hematuria & Hereditary Nephritis

Articles on Familial Hematuria & Hereditary Nephritis in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Familial Hematuria & Hereditary Nephritis

Images of Familial Hematuria & Hereditary Nephritis

Photos of Familial Hematuria & Hereditary Nephritis

Podcasts & MP3s on Familial Hematuria & Hereditary Nephritis

Videos on Familial Hematuria & Hereditary Nephritis

Evidence Based Medicine

Cochrane Collaboration on Familial Hematuria & Hereditary Nephritis

Bandolier on Familial Hematuria & Hereditary Nephritis

TRIP on Familial Hematuria & Hereditary Nephritis

Clinical Trials

Ongoing Trials on Familial Hematuria & Hereditary Nephritis at Clinical Trials.gov

Trial results on Familial Hematuria & Hereditary Nephritis

Clinical Trials on Familial Hematuria & Hereditary Nephritis at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Familial Hematuria & Hereditary Nephritis

NICE Guidance on Familial Hematuria & Hereditary Nephritis

NHS PRODIGY Guidance

FDA on Familial Hematuria & Hereditary Nephritis

CDC on Familial Hematuria & Hereditary Nephritis

Books

Books on Familial Hematuria & Hereditary Nephritis

News

Familial Hematuria & Hereditary Nephritis in the news

Be alerted to news on Familial Hematuria & Hereditary Nephritis

News trends on Familial Hematuria & Hereditary Nephritis

Commentary

Blogs on Familial Hematuria & Hereditary Nephritis

Definitions

Definitions of Familial Hematuria & Hereditary Nephritis

Patient Resources / Community

Patient resources on Familial Hematuria & Hereditary Nephritis

Discussion groups on Familial Hematuria & Hereditary Nephritis

Patient Handouts on Familial Hematuria & Hereditary Nephritis

Directions to Hospitals Treating Familial Hematuria & Hereditary Nephritis

Risk calculators and risk factors for Familial Hematuria & Hereditary Nephritis

Healthcare Provider Resources

Symptoms of Familial Hematuria & Hereditary Nephritis

Causes & Risk Factors for Familial Hematuria & Hereditary Nephritis

Diagnostic studies for Familial Hematuria & Hereditary Nephritis

Treatment of Familial Hematuria & Hereditary Nephritis

Continuing Medical Education (CME)

CME Programs on Familial Hematuria & Hereditary Nephritis

International

Familial Hematuria & Hereditary Nephritis en Espanol

Familial Hematuria & Hereditary Nephritis en Francais

Business

Familial Hematuria & Hereditary Nephritis in the Marketplace

Patents on Familial Hematuria & Hereditary Nephritis

Experimental / Informatics

List of terms related to Familial Hematuria & Hereditary Nephritis

Ali Poyan Mehr, M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords: Synonym 1; Synonym 2; Synonym 3

Overview

The term 'Familial Hematuria and Hereditary Nephritis' refers to a mixed group of inherited kidney disorders which often present in early childhood and adolescence in form of microscopic hematuria [link to hematuria chapter]. The prognosis and associate co-morbidities are highly variable and dependent on the underlying genetic disease. It can be benign as seen in 'Thin Basement-membrane Disease' or lead to early end stage kidney disease as seen in the X-linked form of Alport syndrome [reference].

Unfortunately the term 'Familial Hematuria and Hereditary Nephritis' has been used variably and can be confusing. While the use of 'nephritis' in the term may imply inflammation, the disorders grouped here are NOT inflammatory in nature, nor due they reflect the involvement of a common pathway, inheritance pattern, or pathophysiology.

Historical Perspective

  • A familial pattern of early childhood hematuria was first reported by Leonard G. Guthrie in 1902 [The Lancet, Volume 159, Issue 4105, 3 May 1902, Pages 1243–1246 Originally published as Volume 1, Issue 4105 - " IDIOPATHIC," OR CONGENITAL, HEREDITARY AND FAMILY HEMATURIA.  LeonardG. Guthrie]. In the subsequent years, reports of early childhood hematuria, kidney failure (some associated to deafness or occular abnormalities), and early death in male offsprings emerged [PMID: 20773074] and [Hurst A.F., Guy's Hosp Rep. 73:368-370, 1923]. Initial reports of this familial pattern of hematuria, and kidney failure thought these presentations to be due to pyelonephritis. Later reports, based on kidney biopsies and autopsies, were proposing a glomerulonephritic process to be the primary cause [DOI: 10.1056/NEJM195910082611502]. The ever changing hypothesis of the underlying cause is perhaps a reflection of the various underlying disorders which were responsible in those families describe.

Classification

  • The following disorders are commonly grouped under the term 'Familial Hematuria and Hereditary Nephritis':
    • Hereditary Disorders of Collagen Type IV:
      • Thin Basement Membrane Disease
      • Alport Syndrome
      • Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) (OMIM # 611773)
    • Hereditary Disorders of Laminin:
      • Pierson Syndrome
    • Hereditary Disorder of Gene regulation
      • Nail-Patella Syndrome
    • Hereditary Disorders of cytoskeletal protein non-muscle myosin heavy chain IIA
      • Epstein Syndrome
      • Fechtner Syndrome

It is arbitrary and due to historical reasons, why certain disease are commonly referenced in this category, while other forms of inherited kidney disorders of the glomerular filtration barrier are categorized elsewhere.

Pathophysiology

  • The pathogenesis of [disease name] is characterized by [feature1], [feature2], and [feature3].
  • The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
  • On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
  • On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Causes

  • [Disease name] may be caused by either [cause1], [cause2], or [cause3].
  • [Disease name] is caused by a mutation in the [gene1], [gene2], or [gene3] gene[s].
  • There are no established causes for [disease name].

Differentiating [disease name] from other Diseases

  • [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:
  • [Differential dx1]
  • [Differential dx2]
  • [Differential dx3]

Epidemiology and Demographics

  • The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
  • In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].

Age

  • Patients of all age groups may develop [disease name].
  • [Disease name] is more commonly observed among patients aged [age range] years old.
  • [Disease name] is more commonly observed among [elderly patients/young patients/children].

Gender

  • [Disease name] affects men and women equally.
  • [Gender 1] are more commonly affected with [disease name] than [gender 2].
  • The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.

Race

  • There is no racial predilection for [disease name].
  • [Disease name] usually affects individuals of the [race 1] race.
  • [Race 2] individuals are less likely to develop [disease name].

Risk Factors

  • Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Natural History, Complications and Prognosis

  • The majority of patients with [disease name] remain asymptomatic for [duration/years].
  • Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
  • If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
  • Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
  • Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

  • The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
  • [criterion 1]
  • [criterion 2]
  • [criterion 3]
  • [criterion 4]

Symptoms

  • [Disease name] is usually asymptomatic.
  • Symptoms of [disease name] may include the following:
  • [symptom 1]
  • [symptom 2]
  • [symptom 3]
  • [symptom 4]
  • [symptom 5]
  • [symptom 6]

Physical Examination

  • Patients with [disease name] usually appear [general appearance].
  • Physical examination may be remarkable for:
  • [finding 1]
  • [finding 2]
  • [finding 3]
  • [finding 4]
  • [finding 5]
  • [finding 6]

Laboratory Findings

  • There are no specific laboratory findings associated with [disease name].
  • A [positive/negative] [test name] is diagnostic of [disease name].
  • An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
  • Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

Imaging Findings

  • There are no [imaging study] findings associated with [disease name].
  • [Imaging study 1] is the imaging modality of choice for [disease name].
  • On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
  • [Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

  • [Disease name] may also be diagnosed using [diagnostic study name].
  • Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

  • There is no treatment for [disease name]; the mainstay of therapy is supportive care.
  • The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
  • [Medical therapy 1] acts by [mechanism of action 1].
  • Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

  • Surgery is the mainstay of therapy for [disease name].
  • [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
  • [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

  • There are no primary preventive measures available for [disease name].
  • Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
  • Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].

References

Template:WS Template:WH