Oculo-Cerebro-Renal Syndrome

Abbassi, Valiollah

doi:10.1001/archpedi.1968.02100010147003

Cited by 103 publications

(33 citation statements)

References 32 publications

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“…Lowe noted the absence of glycosuria in his first three patients, even when blood glucose levels were increased to 150 mg/dl in two patients (1). Similarly, in other reviews of patients with Lowe syndrome, glucose was only occasionally detected in the urine and then in marginal amounts (12,20,21). This is obviously in stark contrast to other patients with renal Fanconi syndrome, in whom glycosuria is a defining feature (26 -30).…”

Section: Selective Proximal Dysfunction: Detailed Review and Comparismentioning

confidence: 81%

“…Metabolic acidosis was present in all three originally described children (1). In a subsequent review of 70 cases, 65 had values for blood carbon dioxide content available, which was normal in 12 (18%) (21). Similarly, in a later review of 23 children, eight (35%) did not require alkali substitution to maintain acid-base balance (20).…”

Section: Selective Proximal Dysfunction: Detailed Review and Comparismentioning

confidence: 91%

“…Lowe did not comment on phosphaturia in his three patients, but they had low to normal serum phosphate levels, as in the subsequent review of 70 cases (1,21). In the review by Charnas et al (12), 14 (61%) of 23 patients did not require phosphate supplementation, and four of seven recently described Korean patients with Lowe syndrome developed hypophosphatemia.…”

Section: Selective Proximal Dysfunction: Detailed Review and Comparismentioning

confidence: 93%

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Renal Phenotype in Lowe Syndrome

Böckenhauer

Bökenkamp

Hoff

et al. 2008

Clinical Journal of the American Society of Nephrology

122

117

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Background and objectives: Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood.Design, setting, participants, & measurements: The renal phenotype of 16 patients with Lowe syndrome (10.9 ؎ 7.0 yr) under care of the authors was characterized to define overlap of symptoms with Dent disease and infer clues about OCRL function. Medical charts of patients were reviewed for data regarding glomerular filtration rate and markers of proximal tubular function.Results: All patients had low molecular weight proteinuria and albuminuria. Lysosomal enzymuria was elevated in all 11 patients assessed. Fifteen patients had hypercalciuria, and 14 aminoaciduria. Seven patients required bicarbonate and three required phosphate replacement; all others maintained normal serum values without supplementation. None of the patients had detectable glycosuria, and none had clinically overt rickets. GFR was mildly to moderately impaired and highly variable, with a trend of deterioration with age.Conclusions: Patients with Lowe syndrome do not have renal Fanconi syndrome but a selective proximal tubulopathy, variable in extent and dominated by low molecular weight proteinuria and hypercalciuria, the classical features of Dent disease. These findings suggest that OCRL and ClC-5, the chloride channel mutated in Dent disease, are involved in similar reabsorption pathways in the proximal tubule.

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Section: Selective Proximal Dysfunction: Detailed Review and Comparismentioning

confidence: 81%

Section: Selective Proximal Dysfunction: Detailed Review and Comparismentioning

confidence: 91%

Section: Selective Proximal Dysfunction: Detailed Review and Comparismentioning

confidence: 93%

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Renal Phenotype in Lowe Syndrome

Böckenhauer

Bökenkamp

Hoff

et al. 2008

Clinical Journal of the American Society of Nephrology

122

117

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“…대부분 남성에게 발생하지만, 여성에서의 발생이 보고된 예도 있으며 4) , 발생원인은 Xq25부위에 위치하는 OCRL-1 유전자의 변이에 의한 것으로 밝혀졌다 5) . 눈, 신장 그리고 뇌와 같은 여 러 장기에 영향을 미쳐 선천성 백내장, 심한 정신지체, 신세뇨 관 장애를 나타내며, 그 외에도 근긴장 저하, 건반사 감소, 전두 부 융기, 돌출된 귀, 가늘고 성긴 모발, 경련, 관절이상, 낭종성 질환, 구루병 등이 나타나기도 한다 1,2,6,7) . 치과적 특징으로 Thomas와 Grimm …”

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Dental Treatments of the Child With Lowe Syndrome : A Case Report

Ju¹,

Kim²,

Choi³

2012

THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY

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Department of Pediatric Dentistry, School of Dentistry, Chonnam National UniversityLowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney, brain and musculoskeletal system, and occurs predominantly in males. The patient with Lowe syndrome is characterized with congenital cataracts, glaucoma, prominent forehead, thin and sparse hair, mental and growth retardation, muscular hypotonia, renal dysfunction, and metabolic bone disease.We have experienced a 10-year-old boy with Lowe syndrome who had poor oral hygiene and trouble for teeth brushing. To manage his behavior and systemic metabolic disorder, sedation was performed during dental care.Excessive calculus formation in this patient is caused by both medication and lack of ability to maintain oral hygiene. The dental management of those patients has to be focused on prevention due to difficulties in dental treatment and dangers of general anesthesia for the Lowe syndrome. Abstract

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“…Since that time, many cases have been reported and several biochemical abnormalities have also been discussed (Schwartz et al 1964; Abbassi et al 1968). However, a biochemical lesion which sufficiently explains the pathogenesis of the oculo-cerebro-renal syndrome has not been found.…”

mentioning

confidence: 99%