Title: Long-term study of family with Fanconi syndrome without cystinosis (Detoni-Debré-Fanconi syndrome)
Abstract: The results of a fifteen year follow-up of a family with idiopathic Fanconi syndrome without cystinosis have been reviewed and compared with those of similar cases recorded in the literature. The disease in our patients is considered to be of autosomal dominant transmission. The mother and her oldest child, a son, were severely affected with stunting, hypophosphatemia, hypokalemia, acidosis, gross aminoaciduria (including increased excretion of cystine), proteinuria and glycosuria. The son showed hypercalciuria, but the mother's urinary excretion of calcium was within the normal range. The two younger children were small for their ages and showed some increase in aminoaciduria; each finally achieved low normal height and in neither has the disease developed as yet. Of four grandchildren, one is somewhat stunted at one year of age, but otherwise, up to the present, all seem to be normal. Control of the disease in the two affected members became increasingly difficult after each lapse in therapy. Similar findings have been reported by others.
Publication Year: 1966
Publication Date: 1966-04-01
Language: en
Type: article
Indexed In: ['crossref']
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Cited By Count: 30
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