Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q92565 (GFR)
 4,179 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old male 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 mumol/L (3.3 mg/dL) and a GFR of 25 mL/min 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 pyelography 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.
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PMID:Bardet-Biedl syndrome and cystinuria. 146 12

The renal abnormality of the Laurence-Moon-Biedl syndrome (LMBS) was investigated in six patients. The glomerular filtration rate (CIn) and the effective renal plasma flow (CPAH) were evaluated by standard clearance techniques and the single injection method, and the maximal concentration capacity was estimated by the ddAVP test. The kidney surface area and length were related to the body surface area, as well as the lumbar vertebrae L1-L3, and the relationship with the GFR was studied. All six patients showed renal abnormalities: Five had small kidneys with reduced GFR and concentrating ability, and one had hyperaminoaciduria (but normal kidney size). Two patients developed terminal renal failure (one of them was successfully transplanted), illustrating the progressive character of the renal lesion. Three of the patients had had recurrent urinary tract infections, but the radiological changes of the kidneys were of the same character as in the others (symmetrical and irregular parenchymal reduction, and blunting and clubbing of the calyces). Since renal abnormalities, with considerable risk for progression to terminal renal failure, are common in the LMBS, regular urine cultures and blood pressure measurements are probably of great importance.
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PMID:Renal involvement in the Laurence-Moon-Biedl syndrome. Functional and radiological studies. 396 57