Differentials
MYH9 disorders (Epstein's syndrome and Fechtner's syndrome)
Branchio-oto-renal syndrome
SIGNS / SYMPTOMS
Autosomal-dominant disorder characterised by hearing loss; structural defects of the outer, middle, and inner ear; branchial fistulas or cysts; and renal disease. The condition shows reduced penetrance and variable expressivity, making diagnosis in some cases difficult.
INVESTIGATIONS
Hearing loss may be sensorineural, conductive, or mixed on formal testing. Renal abnormalities ranging from mild hypoplasia to complete absence may be seen on ultrasound. Mainly due to mutations in the EYA1 and SIX1 genes.[41]
Thin basement membrane nephropathy
SIGNS / SYMPTOMS
Usually no family history of renal failure except in families with autosomal and X-linked Alport syndrome. Rarely associated with other types of glomerulonephritis. History is negative except for persistent microscopic haematuria. Often positive family history of haematuria.
INVESTIGATIONS
All tests normal except for presence of haematuria of glomerular origin. Thin glomerular basement membrane on electron microscopy and normal immunohistochemical staining for type IV collagens in skin and kidney. COL4A3 and COL4A4 testing is available. If positive it may be referred to as autosomal dominant Alport syndrome.[5]
Familial focal segmental glomerulosclerosis
SIGNS / SYMPTOMS
Usually no family history of hearing loss and most likely autosomal dominant or recessive. No microscopic haematuria.
INVESTIGATIONS
Diagnosis on renal biopsy. Mutations described in many genes including INF2, ACTN4, TRPC6, CD2AP, NPHS1, NPHS2, and PLCE1, though it is highly genetically heterogeneous.
Maternally inherited diabetes mellitus and deafness
SIGNS / SYMPTOMS
Maternally inherited and associated with a family history of diabetes mellitus.
INVESTIGATIONS
Mutation screening for mutations in MT-TL1, MT-TE, and MT-TK genes.
IgA nephropathy
SIGNS / SYMPTOMS
Usually no family history. Absence of haematuria in relatives, although rare familial cases have been reported. No other associated features.
INVESTIGATIONS
Renal biopsy reveals glomerular deposition of IgA.
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