oculocerebrorenal syndrome

oc·u·lo·cer·e·bro·re·nal syn·drome

[MIM*309000] a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq. Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome

oculocerebrorenal syndrome

Lowe syndrome An X-R disorder that maps to chromosome Xq24-26 Clinical Congenital cataract, corneal ulceration, hydrophthalmia, glaucoma, mental retardation, renal tubular dysfunction-Fanconi syndrome, aminoaciduria, vitamin D-resistant rickets, areflexia, hypotonia, idiopathic joint swelling Lab Proteinuria, ↑ muscle enzymes, α₂-globulin, HDL-C, metabolic acidosis Management Alkalinize urine; supplemental potassium, phosphate, calcium, carnitine

Lowe,

Charles U., U.S. pediatrician, 1921–. Lowe syndrome - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndromeLowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome

单词	oculocerebrorenal syndrome
释义	DictionarySeesyndrome oculocerebrorenal syndrome oc·u·lo·cer·e·bro·re·nal syn·drome [MIM309000] a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq. Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome oculocerebrorenal syndrome Lowe syndrome An X-R disorder that maps to chromosome Xq24-26 Clinical Congenital cataract, corneal ulceration, hydrophthalmia, glaucoma, mental retardation, renal tubular dysfunction-Fanconi syndrome, aminoaciduria, vitamin D-resistant rickets, areflexia, hypotonia, idiopathic joint swelling Lab Proteinuria, ↑ muscle enzymes, α₂-globulin, HDL-C, metabolic acidosis Management Alkalinize urine; supplemental potassium, phosphate, calcium, carnitine Lowe, Charles U., U.S. pediatrician, 1921–. Lowe syndrome* - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndromeLowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome
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