Two Cases of Aminoaciduria, Ocular Changes and Retarded Mental and Somatic Development (Lowe's Syndrome)

Terslev, E

doi:10.1111/j.1651-2227.1960.tb07781.x

Cited by 27 publications

(8 citation statements)

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“…This unusual distribution of excess amino acids was seen in the patient reported in this paper when he was aged 7 and again when 13, although when he was aged 11 months he excreted increased amounts of 18 aminoacids, including the dibasic amino acids (Johnson, 1966). Terslev (1960) found that the mother of one of his patients with Lowe's syndrome had albuminuria and marked cystinuria. Although paper chromatography 'gave negative results' Terslev concluded that she had cystinuria.…”

Section: Discussionmentioning

confidence: 99%

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

Bailey¹,

Carrell²,

Shannon³

1976

Archives of Disease in Childhood

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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.

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Section: Discussionmentioning

confidence: 99%

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

Bailey¹,

Carrell²,

Shannon³

1976

Archives of Disease in Childhood

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“…In another patient, amorphous casts and epi thelial atrophy were seen mainly in the distal tubules, whereas the other tubules showed slight swelling of the epithelial cells and in distinct cell limits (23). In a third case the proximal tubules were nor mal, colloid deposits were present in the distal tubules, and calcium deposits were seen mainly in the collecting ducts (26). Marked dilata tion of the collecting ducts, which contained huge granular casts, was observed in another patient (22).…”

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confidence: 92%

“…Dilatation of the tubular lumens can be very pronounced, resulting in a pseudocystic pattern (12,27). In the lumens crystalline material (10,21,25,26), mostly calcium, and large casts (8,10,12,20,22,23,24,26,27), mostly proteinaceous, have been observed. In most cases the exact site of tubular damage was not mentioned or could not be localized.…”

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confidence: 99%

“…Other more obvious lesions were marked thickening of Bowman's capsule (2) and pericapsular lamellar fibrosis (8). Finally, different stages of a progressive destruction of the glomeruli have been described: irregular thickening and rigidity of the capillary basement membrane (21), hyalinization (2,8,20,22), sclerosis (21) and complete scarring of the glomerular tuft (20,26). The described alterations in the tubules varied from discrete abnormalities to pronounced destruc tion.…”

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confidence: 99%

“…The following abnormalities of the interstitial tissue were noted: edema (12,27), fine fluffy deposits (26), infiltration with round cells (2,10,12,22,24,26,27), fibrous changes (2,8,20,22) and nephrocalcinosis (8,21,24). Abnormalities of the blood vessels were seen in only one patient: hyperplasia of the wall of some arterioles was noted.…”

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The Histologic Lesions of the Kidney in the Oculo-Cerebro-Renal Syndrome of Lowe

Acker¹,

Roels²,

Beelaerts³

et al. 1967

Nephron

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In three patients with oculo-cerebro-renal syndrome (Lowe’s syndrome) renal tissue obtained by biopsy or at autopsy was studied. In all three cases the specimens were examined by light microscopy, and in two of the three by electron microscopy. Microdissection of the nephrons was performed in one case. The data obtained in these studies confirmed the prevalence of tubular lesions, a fact that has been stressed in the sporadic literature on this subject. Electron microscopic studies, however, also revealed glomerular lesions at an early stage. These lesions were shown to be progressive. These data, however, need to be confirmed by further studies.

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The Oculo-Cerebral-Renal Syndrome of Lowe

Kornfeld¹

1975

Arch Neurol

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Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement.

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Two Cases of Aminoaciduria, Ocular Changes and Retarded Mental and Somatic Development (Lowe's Syndrome)

Cited by 27 publications

References 8 publications

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

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

The Histologic Lesions of the Kidney in the Oculo-Cerebro-Renal Syndrome of Lowe

The Oculo-Cerebral-Renal Syndrome of Lowe

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