title: [Nephropathy and Charcot-Marie-Tooth disease. A case report].
abstract: 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.
authors.affiliation: Unité de néphrologie pédiatrique, Hôpital Edouard-Herriot, Lyon, France.
authors.forename: I
authors.initials: I
authors.lastname: Fillod
authors.forename: P
authors.initials: P
authors.lastname: Cochat
authors.forename: S
authors.initials: S
authors.lastname: Colon
authors.forename: C
authors.initials: C
authors.lastname: Wright
authors.forename: L
authors.initials: L
authors.lastname: David
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology*; D009134:Muscular Atrophy, Spinal / Q000150:complications*; D010375:Pedigree; D013997:Time Factors
vernacular_title: Néphropathie et maladie de Charcot-Marie-Tooth. Une observation.