Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report clinical features and course of Lowe's syndrome with regard to three cases. All of them are males and clear inherited transmission was demonstrated in patients 2 and 3 and was suggested in patient 1. Age at the moment of diagnosis oscillated between 7 and 18 years. The three cases showed weight and height percentiles under p 3. Congenital bilateral cataract and search nystagmus were found in all of them. Profound mental retardation, muscular hypotonicity and diminished or absent tendon reflexes constituted distinctive findings in the neurological area. Among renal manifestations stood out proteinuria, generalized hyperaminoaciduria and tubular renal acidosis, they carried from rickets and growth failure. Cases 1 and 2 has characteristic facies. Patient 1 died after series of recurrent bronchial and pulmonary infections: death happened during Fanconi's syndrome evolution. Cases 2 and 3 are in a stabilized period, with a longer life expectation, although they suffer from residual moderate renal failure.
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PMID:[Oculocerebrorenal sydrome of Lowe. Apropos of three cases]. 236