Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011881 (diabetic nephropathy)
 10,836 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a Thai family with three children, two of whom presented with Wolfram syndrome, which is a rare syndrome characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness and urinary tract dilatation. A girl and her younger brother had insulin-dependent diabetes mellitus at 11 years old with early onset of renal impairment, proteinuria and hypertension. Urinary tract dilatation was demonstrated in both patients. Kidney biopsies were compatible with diabetic nephropathy. Both children also had bilateral sensorineural hearing loss. Optic atrophy with severe loss of vision was detected in the girl and bilateral cataract in her brother. Both patients were HLA DR2 positive. At 16 years old, her creatinine clearance was 16 ml/min/1.73 m2. Her brother's creatinine clearance was 25 ml/min/1.73 m2 at 13 years old. We conclude that renal function should be evaluated in patients with Wolfram syndrome and the cause of renal failure in these patients may be rapid and severe diabetic nephropathy.
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PMID:Renal failure in two patients with Wolfram syndrome. 946 37

We present an autopsy case of a 19 year old male admitted for breathlessness and oliguria. He was diabetic since 7 years of age and was on insulin. Patient was on testosterone and anti hypertensives. He was diagnosed of hypocontractile bladder and congenital bilateral megaureter with vesico-ureteric reflux 2 years back. History of hemiparesis 2 years back. CT scan of the brain showed a right fronto- parietal healed infarct. At autopsy, bilateral kidneys showed coarse granularity and scarring. Pelvicalyceal system and both ureters were dilated. A right sided intrabdominal testes was identified. On histology, kidney showed features of diabetic nephropathy and pancreas showed decreased number of islet cells. Correlating the clinical, laboratory and autopsy parameters, our case satisfies the EURO-WABB criteria (1major+2minor) for diagnosis of Wolfram Syndrome, even though genetic confirmation could not be done.[1],[2].
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PMID:Wolfram syndrome: A rare case report. 3136 Dec 46