Alport syndrome differential diagnosis: Difference between revisions
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{{Alport syndrome}} | {{Alport syndrome}} | ||
The differential diagnosis of Alport’s syndrome includes other conditions that involve persistent familial hematuria, renal failure, hearing loss, retinal fleck, and lamellated GBM.<ref name="pmid23349312">{{cite journal| author=Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F| title=Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. | journal=J Am Soc Nephrol | year= 2013 | volume= 24 | issue= 3 | pages= 364-75 | pmid=23349312 | doi=10.1681/ASN.2012020148 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23349312 }} </ref>Some of the | The differential diagnosis of Alport’s syndrome includes other conditions that involve persistent familial hematuria, renal failure, hearing loss, retinal fleck, and lamellated GBM.<ref name="pmid23349312">{{cite journal| author=Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F| title=Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. | journal=J Am Soc Nephrol | year= 2013 | volume= 24 | issue= 3 | pages= 364-75 | pmid=23349312 | doi=10.1681/ASN.2012020148 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23349312 }} </ref>Some of the common diseases are listed in the table below.<ref name="pmid8253711">{{cite journal| author=Hudson BG, Reeders ST, Tryggvason K| title=Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. | journal=J Biol Chem | year= 1993 | volume= 268 | issue= 35 | pages= 26033-6 | pmid=8253711 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8253711 }} </ref><ref name="pmid7819734">{{cite journal| author=Amari F, Segawa K, Ando F| title=Lens coloboma and Alport-like glomerulonephritis. | journal=Eur J Ophthalmol | year= 1994 | volume= 4 | issue= 3 | pages= 181-3 | pmid=7819734 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7819734 }} </ref><ref name="pmid1559666">{{cite journal| author=Lonsdale RN, Roberts PF, Vaughan R, Thiru S| title=Familial oesophageal leiomyomatosis and nephropathy. | journal=Histopathology | year= 1992 | volume= 20 | issue= 2 | pages= 127-33 | pmid=1559666 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1559666 }} </ref><ref name="pmid8238008">{{cite journal| author=García-Torres R, Orozco L| title=Alport-leiomyomatosis syndrome: an update. | journal=Am J Kidney Dis | year= 1993 | volume= 22 | issue= 5 | pages= 641-8 | pmid=8238008 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8238008 }} </ref><ref name="pmid11137428">{{cite journal| author=McCarthy PA, Maino DM| title=Alport syndrome: a review. | journal=Clin Eye Vis Care | year= 2000 | volume= 12 | issue= 3-4 | pages= 139-150 | pmid=11137428 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11137428 }} </ref> | ||
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| bgcolor="#ececec"| '''Leiomyomatosis''' || Cataract, auditory manifestations, and glomerulonephritis with multiple benign lesions made of smooth muscle cells || May be present with Alport’s syndrome due to involvement of adjacent gene, COL4A6. | | bgcolor="#ececec"| '''Leiomyomatosis''' || Cataract, auditory manifestations, and glomerulonephritis with multiple benign lesions made of smooth muscle cells || May be present with Alport’s syndrome due to involvement of adjacent gene, COL4A6. | ||
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<u>According to expert opinion<ref name="pmid23349312">{{cite journal| author=Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F| title=Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. | journal=J Am Soc Nephrol | year= 2013 | volume= 24 | issue= 3 | pages= 364-75 | pmid=23349312 | doi=10.1681/ASN.2012020148 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23349312 }} </ref>, the differential diagnosis of Alport’s syndrome is very wide and includes the following:</u> | <u>According to expert opinion<ref name="pmid23349312">{{cite journal| author=Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F| title=Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. | journal=J Am Soc Nephrol | year= 2013 | volume= 24 | issue= 3 | pages= 364-75 | pmid=23349312 | doi=10.1681/ASN.2012020148 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23349312 }} </ref>, the differential diagnosis of Alport’s syndrome is very wide and includes the following:</u> | ||
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The differential diagnosis of Alport’s syndrome includes other conditions that involve persistent familial hematuria, renal failure, hearing loss, retinal fleck, and lamellated GBM.[1]Some of the common diseases are listed in the table below.[2][3][4][5][6]
| Differential Diagnosis | Distinguishing Features | Comments |
| Polycystic Kidney Disease | Generally, absence of auditory or ocular manifestations | Ocular manifestations such as retinal dystrophy might be present |
| Medullary Cystic Disease | Absence of auditory or ocular manifestations | Ocular manifestations such as congenital cataracts may be present |
| Epstein Syndrome | Renal, auditory, and hematological manifestations | Type V AS variant |
| Fechtner Syndrome | Renal, auditory, and hematological manifestations | Type III AS variant |
| Leiomyomatosis | Cataract, auditory manifestations, and glomerulonephritis with multiple benign lesions made of smooth muscle cells | May be present with Alport’s syndrome due to involvement of adjacent gene, COL4A6. |
According to expert opinion[1], the differential diagnosis of Alport’s syndrome is very wide and includes the following:
Familial Hematuria
- TBMN
- Familial IgA nephropathy
- MYH9-related disorder, such as Fechtner and Epstein syndromes
- Membranoproliferative GN type 2
- Familail hemolytic uremic syndrome
- C3 nephropathy
- ADPKD
- Sickle cell disease or trait
- Familial hypercalciuria or familial urolithiasis
Renal Impairment and Hearing Loss
- MYH-9 related disorders such as Fechtner syndrome
- Nephronophthisis
- Bartter syndrome
- Distal renal tubular acidosis
- MELAS syndrome
- Fabry disease
- Branchio-oto-renal syndrome
- Townes-Brock syndrome
- CHARGE syndrome
- Kallmann syndrome
- Alstrom disease
- Muckle-Wells syndrome
Hearing Loss
- Middle-ear infections
- Age
- Industrial noise exposure
- Ototoxic drugs
- Renal failure and dialysis
Retinal Flecks
- Membranoproliferative GN type 2
- IgA nephropathy
- Systemic lupus erythematosus
- Other forms of GN
- Severe hypertension
- C3 nephropathy
Lamellated Glomerular Basement Membrane
- Focal damage
- MYH9-related disorders, such as Fechtner and Epstein syndromes
- Pierson syndrome
- Nail-patella syndrome
- Mutations in the tetraspanin (CD151) gene
- Frasier syndrome
- Galloway-Mowat syndrome
References
- ↑ 1.0 1.1 Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F (2013). "Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy". J Am Soc Nephrol. 24 (3): 364–75. doi:10.1681/ASN.2012020148. PMID 23349312.
- ↑ Hudson BG, Reeders ST, Tryggvason K (1993). "Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis". J Biol Chem. 268 (35): 26033–6. PMID 8253711.
- ↑ Amari F, Segawa K, Ando F (1994). "Lens coloboma and Alport-like glomerulonephritis". Eur J Ophthalmol. 4 (3): 181–3. PMID 7819734.
- ↑ Lonsdale RN, Roberts PF, Vaughan R, Thiru S (1992). "Familial oesophageal leiomyomatosis and nephropathy". Histopathology. 20 (2): 127–33. PMID 1559666.
- ↑ García-Torres R, Orozco L (1993). "Alport-leiomyomatosis syndrome: an update". Am J Kidney Dis. 22 (5): 641–8. PMID 8238008.
- ↑ McCarthy PA, Maino DM (2000). "Alport syndrome: a review". Clin Eye Vis Care. 12 (3–4): 139–150. PMID 11137428.