Oculo-cerebro-renales Syndrom (Lowe): Karakt bei einem Feten

Endres, W.; Schaub, J.; Stefani, F. H.; Wirtz, A.; Zahn, V.

doi:10.1007/bf01490242

Cited by 13 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In families, where the OCRL mutation is known, genetic diagnosis can be performed following chorionic villi or amniotic fluid sampling [156]. In other cases, early detection of Lowe syndrome might be achieved by measuring the IPP-5P activity in cultured amniocytes, elevated maternal serum and amniotic fluid alpha-fetal protein, or by the diagnosis of fetal cataract [157][158][159][160][161]. A recent report described increased fetal nuchal translucency in two cases with Lowe syndrome [162].…”

Section: Prenatal Diagnosismentioning

confidence: 99%

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

2015

View full text Add to dashboard Cite

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas the ocular manifestations and severe hypotonia are present at birth, the renal involvement appears within the first months of life. Patients show progressive growth retardation and may develop a debilitating arthropathy. Treatment is symptomatic and life span rarely exceeds 40 yr. The causative OCRL gene, encodes an inositol polyphosphate 5-phosphatase. OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 disease. There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of enzyme function. Researchers have conducted a large amount of work to understand the etiology responsible for the disease. However, the mechanisms leading to the clinical manifestations are still poorly understood and we are far from an effective therapy. In this review, we have included well-established findings and the most recent progress in understanding Lowe syndrome and Dent-2 disease.

show abstract

Section: Prenatal Diagnosismentioning

confidence: 99%

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

2015

View full text Add to dashboard Cite

show abstract

“…In Lowe oculo-cerebro-renal syndrome (McKusick 309000) the congenital bilateral cataract may develop early in utero as has been observed at a gestational age of 24 weeks (Endres et al 1977). Lenticular opacities have also been observed in mothers of patients with this X-linked disease (Holmes et al 1969;Gardner and Brown 1976;Hittner et al 1982).…”

Section: Disorders Independent Of Food Intakementioning

confidence: 99%

Inherited metabolic diseases affecting the carrier

Endres

1997

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

The objective of this review is to draw attention to those inherited metabolic traits which are potentially harmful also for the carrier, and to outline preventive measures, at least for obligate heterozygotes, i.e. parents of homozygous children. Concerning carriers of food-dependent abnormalities, early vascular disease in homocystinuria, hyperammonaemic episodes in ornithine transcarbamylase deficiency, presenile cataracts in galactosaemia as well as galactokinase deficiency, spastic paraparesis in X-linked adrenoleukodystrophy, and HELLP syndrome in mothers of babies with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency have to be mentioned. In the group of food-independent disorders, clinical features in carriers may be paraesthesias and corneal dystrophy in Fabry disease, lens clouding in Lowe syndrome, lung and/or liver diseases in alpha 1-antitrypsin deficiency, and renal stones in cystinuria type II and III. Finally, two monogenic carrier states are known which in pregnant individuals could possibly afflict the developing fetus, i.e. heterozygosity for galactosaemia and for phenylketonuria. Elevated levels of galactose-1-phosphate have been found in red blood cells of infants heterozygous for galactosaemia born to heterozygous mothers. Aspartame in very high doses is reported to increase blood phenylalanine levels in heterozygotes for phenylketonuria, thus being a risk for the fetus of a heterozygous mother. For some of these carrier states preventive measures can be recommended, e.g. restriction of lactose in parents and heterozygous grandparents of children with galactosaemia and galactokinase deficiency as well as transiently in infants heterozygous for galactosaemia, dietary supplementation with monounsaturated fatty acids in symptomatic carriers for X-linked adrenoleukodystrophy, avoidance of smoking and alcohol in heterozygotes for alpha 1-antitrypsin deficiency, avoidance of episodes of dehydration in heterozygotes for cystinuria, and restriction of aspartame in pregnant women.

show abstract

“…Die Trübungen der Linsenrinde hingegen waren auf den hinteren Linsenpol begrenzt und zeigten eine typische inverse Y-Formation. Interessanterweise konnten ähnlich konfigurierte umschriebene hintere Rindentrübungen der Linse sowohl bei sehr frühen embryonalen Entwicklungsstadien [3,4] als auch bei einigen älteren Konduktorinnen beobachtet werden [7,15]. Diese Beobachtungen lassen neben einer Entwicklungsstçrung primärer Linsenfasern (residualer Linsenkern) auch eine Reifungsstçrung sekundärer Linsenfasern vermuten, die sich zunächst im Bereich der hinteren Linsenrinde manifestiert.…”

Section: Abstract !unclassified

Klinische Befunde eines Patienten mit Lowe-Syndrom und einer Splice Site Mutation im OCRL1-Gen

Keilhauer

Gál

Sold

et al. 2007

Klin Monatsbl Augenheilkd

View full text Add to dashboard Cite

The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defect in early embryogenesis. We report on a 35-year-old patient with a mild Lowe syndrome phenotype including incomplete lenticular opacities. Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function.

show abstract

Oculo-cerebro-renales Syndrom (Lowe): Karakt bei einem Feten

Cited by 13 publications

References 10 publications

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

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

Inherited metabolic diseases affecting the carrier

Klinische Befunde eines Patienten mit Lowe-Syndrom und einer Splice Site Mutation im OCRL1-Gen

Contact Info

Product

Resources

About