TY - JOUR
T1 - Bardet-biedl syndrome and cystinuria
AU - Marchi, Sergio De
AU - Cecchin, Emanuela
AU - Bartoli, Ettore
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
KW - Bardet-Biedl syndrome
KW - Cystinuria
KW - Laurance-Moon-Biedl syndrome
KW - Renal failure
KW - Retinitis pigmentosa
UR - http://www.scopus.com/inward/record.url?scp=0026469111&partnerID=8YFLogxK
U2 - 10.3109/08860229209047670
DO - 10.3109/08860229209047670
M3 - Article
SN - 0886-022X
VL - 14
SP - 587
EP - 590
JO - Renal Failure
JF - Renal Failure
IS - 4
ER -