Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with Laurence-Moon-Biedl syndrome and nephrotic range proteinuria is presented. Radiological investigation of the urinary tract revealed clubbed calyces but no evidence of obstruction or vesicoureteric reflux. Renal biopsy revealed occasional sclerotic glomeruli, extensive foot-process fusion and segmental glomerular basement membrane abnormalities with negative immunofluorescence for immunoglobulins and complement. Nephrotic proteinuria responded to steroid therapy but mild proteinuria persisted. The findings were consistent with minimal change nephropathy superimposed on the glomerular lesions of Lawrence-Moon-Biedl syndrome.
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PMID:Glomerulonephropathy of Laurence-Moon-Biedl syndrome. 324 10

A 39 year old man with 4 of the 5 cardinal features of the Laurence-Moon-Biedl syndrome (LMBS) had proteinuria and moderate renal failure. Excretory urography showed small cysts communicating with the dilated calyceal system. Renal biopsy showed diffuse mesangial sclerosis and cellular proliferation. Excretory urograms in 22 of 24 reported patients demonstrated similar findings. Review of renal pathology reports on 16 patients revealed either chronic glomerulonephritis or severe tubulo-interstitial disease with cysts or both in 8 of 9 who died from uremia and 2 of 7 who died from other causes. The abnormalities seen on excretory urography occur more frequently than 2 of the cardinal features, and as uremia is often the cause of death for these patients, renal disease should be considered a cardinal feature of LMBS.
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PMID:Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. 729 73

The certificates of death of 14 deceased patients with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, in which retinal dystrophy is dominant feature, were review. Death occurred at a considerably younger age than in the general population. Renal disease was noted as primary or contributing cause of death in 7 cases with the diagnoses: cyst of the kidney, renal sclerosis, renal failure, proteinuria, renal disease unspecified and malignant hypertension with renal involvement. It is concluded that renal involvement is characteristic of individuals with LMBB syndrome and seems to reduce life expectancy considerably.
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PMID:The cause of death in Laurence-Moon-Bardet-Biedl syndrome. 874 Nov 18