Bardet-biedl syndrome and cystinuria

Sergio De Marchi, Emanuela Cecchin, Ettore Bartoli

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

Abstract

An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old mate was admitted to hospital because of renal failure, severe deterioration of visual acuity, Polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 μmol/L (3.3 mgldL) and a GFR of 25 mLlmin per 1.73 m2. Quantitative ion exchange chromatography demonstrated an increased urinary excretion rate of cystine, lysine, arginine, and ornithine. The ophthalmologic examination showed a severe atypical retinal dystrophy. Visual acuity was severely deteriorated and the patient could only count the examining physician's fingers. The patient had been previously evaluated at the age of 7 years for polyuria, polydipsia, and growth failure. His workup at that time demonstrated nephrogenic diabetes insipidus, normal GFR, and a urinary amino acid pattern consistent with the cystinuric phenotype. There was mental retardation notwithstanding the normal ophthalmologic examination. Intravenous pielography showed calyceal clubbing, calyceal cysts, and lobulated renal outlines of the fetal type. The patient was evaluated again at the age of 13 years for deterioration of visual acuity and the ophthalmologic examination showed an atypical retinal dystrophy, with sparse pigmentation, central and peripheral atrophy, attenuated vessels, and marked optic disk pallor. To our knowledge the association of Bardet-Biedl syndrome with cystinuria has never been reported. It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded.

Lingua originaleInglese
pagine (da-a)587-590
Numero di pagine4
RivistaRenal Failure
Volume14
Numero di pubblicazione4
DOI
Stato di pubblicazionePubblicato - 1992
Pubblicato esternamente

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