Alport syndrome differential diagnosis
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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 (23349312). Some of the other diseases are listed in the table below.[1][2][3][4][5]
Normal 0 false false false EN-US JA X-NONE
According to expert opinion[6], the differential diagnosis of Alport’s syndrome is very wide and includes the following:
Familial hematuria[6]:
- 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 (23349312):
- 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[6]
- Middle-ear infections
- Age
- Industrial noise exposure
- Ototoxic drugs
- Renal failure and dialysis
- Retinal flecks (23349312):
- Membranoproliferative GN type 2
- IgA nephropathy
- Systemic lupus erythematosus
- Other forms of GN
- Severe hypertension
- C3 nephropathy
Lamellated GBM[6]:
- Focal damage
- MYH9-related disorders, such as Fechtner and Epstein syndromes
- Pierson syndromeNail-patella syndromeMutations in the tetraspanin (CD151) gene
- Frasier syndrome
- Galloway-Mowat syndrome
References
- ↑ 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.
- ↑ 6.0 6.1 6.2 6.3 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.