Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 12 year-old girl with a family of Charcot-Marie-Tooth neuropathy was referred to us with mild proteinuria without hematuria or renal insufficiency; a renal biopsy specimen showed focal glomerulosclerosis. Two years later, proteinuria and renal function were quite stable and there was no arterial hypertension. Of 13 other cases in the literature, the outcome of renal involvement has the same profile:proteinuria at onset with or without microhematuria, sometimes with nephrotic syndrome; the prognosis is often poor, since 9 out of 13 patients have end-stage renal failure after 6 months to 17 years of follow-up. The pathological examination show focal glomerulosclerosis in most cases. Nerve deafness is uncommon in Charcot-Marie-Tooth disease but was present in 7 out of 13 patients with the nephritis. Such an association may be a variant of the dominant autosomal form of the disease, whose gene is located on chromosome 1.
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PMID:[Nephropathy and Charcot-Marie-Tooth disease. A case report]. 216 44

In three unrelated kindreds, 21 subjects with hereditary renal disease were identified. The mode of inheritance was autosomal dominant and the main clinical features were asymptomatic proteinuria and/or haematuria. Three of the 16 females but none of the five males developed progressive renal failure. Renal biopsy carried out in six of the 21 patients showed varying degrees of mesangial change with glomerular deposition of IgM and C3 in some cases. Nerve deafness and renal ultrastructural changes typical of Alport's Syndrome were absent. The renal disease in these subjects does not conform with previously recognised types of familial nephropathy.
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PMID:Hereditary glomerulonephritis of non-Alport type. 687 56