Nefro - 24-3 - MIOLO.indd
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چکیده
Oculocerebrorenal or Lowe Syndrome is characterised by bilateral congenital cataracts, renal tubular dysfunction and hypotonia. It is a rare X -linked disorder caused by mutations of the OCRL1 gene located at Xq26.1, resulting in phosphatidylinositol 4,5 -bisphosphate (PIP2) 5 phosphatase deficiency. The diagnosis is based on morphological characteristics. Pre and postnatal diagnosis is made by enzymatic and molecular analysis. Several mutations have been described in Lowe Syndrome and are related to heterogeneous phenotypical spectrum. The authors report a five year-old patient with mild Lowe Syndrome phenotype including congenital cataracts, glaucoma, hypotony and mental retardation, as well as proximal tubulopathy including generalised aminoaciduria and hypercalciuria but no phosphaturia or renal tubular acidosis. Clinical findings in this mild renal phenotype suggests that the gene product of the mutated allele (IVS12+5G>A) identified in the patient exhibits some residual function.
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تاریخ انتشار 2010