Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

Abstract

558. Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family. The mother and daughter in a family had homozygous cystinuria and were also heterozygous carriers of the oculo-cerebro-renal dystrophy of Lowe. The daughter was also epileptic. The son had Lowe's syndrome and the father an increased urinary excretion of cystine and lysine. This evidence together with other case reports suggests that the defect in cystinuria and that of Lowe's syndrome may be connected.The oculo-cerebral-renal dystrophy of Lowe and cystinuria are both rare hereditary disorders. One patient with the former syndrome has been reported in New Zealand (Johnson, 1966 The sodium nitroprusside screening test for cystine was strongly positive and high voltage electrophoresis of the urine showed much increased bands of cystine, lysine, arginine, and omithinine typical of cystinuria ( Fig.). This was confirmed by analysis of urine on an automated amino acid analyser. The blood urea was 26 mg/100 ml, serum creatinine 0 7 mg/100 ml, mean 24-hour creatinine clearance 55 ml/min, mean 24-hour protein excretion 90 mg, serum calcium 9 2 mg/ 100 ml, serum phosphorus 4 0 mg/100 ml, and the serum uric acid 4-6 mg/100 ml. After 5 units of intramuscular pitressin tannate in oil the patient concentrated her urine to 654 mOsm/kg water. A standard ammnonium chloride test (0-1 g/kg orally) resulted in a minimum urine pH of 5 * 3.A 5 * 4 g staghom calculus removed from the left kidney was composed of cystine with a trace of calcium oxalate. After the operation the creatinine clearance was 94 ml/min. Over the next five years she was lost to medical follow-up and failed to maintain the recommended high daily fluid intake of 4 1.At the age of 43 she developed acute left ventricular failure. Cardiological investigations showed her to have mild mitral stenosis, mitral incompetence, and aortic incompetence. The following year pain in the left loin recurred. Radiological investigations showed a non-finctioning kidney due to obstruction at the pelviureteric junction by a partly opacified calculus. The blood urea was 43 mg/100 ml and the serum creatinine 1-3 mg/100 ml. The urine was sterile but contained 130 white cells/mm3. Nephrolithotomy was again undertaken. The renal pelvis and calyces were much dilated and contained a large quantity of pus and several cystine calculi. The patient is now following a high fluid intake regimen together with 3 g of sodium bicarbonate before retiring.

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

“…In three patients with elevated HDL-C, Asami et al [138] detected a heterozygous p.Asp442Gly mutation in the gene encoding cholesteryl ester transfer protein (CETP) in one of these patients and assumed this as a possible cause of increased serum HDL-C. The finding of homozygous cystinuria and Lowe syndrome in one family was described by Bailey et al [139]. In one patient, where diagnosis was only based on decreased IPP-5P activity in cultured skin fibroblasts and not on OCRL gene analysis, anal atresia has been reported in association with Lowe syndrome [102].…”