Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Homozygous familial hypobetalipoproteinaemia (Ho-FHBL) is a rare co-dominant disorder characterized by extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Most patients with Ho-FHBL have mutations in APOB gene resulting in truncated apoBs. Some patients are asymptomatic, while others have fatty liver, intestinal fat malabsorption and neurological dysfunctions. We investigated three adult subjects with severe hypobetalipoproteinaemia and a family history of FHBL. Proband FHBL-47 had liver cirrhosis with hepatocarcinoma and a renal carcinoma but no clinical manifestations related to FHBL. He was a compound heterozygote for a 7-bp deletion in exon 21 and a base insertion in exon 26 resulting in truncated apoBs (apoB-22.46/apoB-66.51). Proband FHBL-53, with severe hepatic steatosis and fibrosis, had a nonsense mutation in exon 19 resulting in a truncated apoB (apoB-20.61) and a rare nucleotide substitution in intron 14 (c.2068-4T>A). The latter was also present in her daughter, found to have low plasma LDL-C and apoB. Proband FHBL-82 had chronic diarrhoea and steatorrhoea. She was found to be homozygous for a nonsense mutation in exon 24 resulting in a truncated apoB (apoB-26.65). In adult subjects, the presence of chronic liver disease and chronic diarrhoea, when associated with severe hypobetalipoproteinaemia, may lead to the diagnosis of Ho-FHBL.
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PMID:Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. 1849 86

Renal cell carcinoma accounts for approximately 3% of adult malignancies. Designated in the literature as "the great masquerader," the great diversity of clinical manifestations is associated with the several paraneoplastic syndromes that potentially accompany it. Paraneoplastic amyloidosis is described in about 3-8% of cases, only exceptionally as an initial manifestation, with uncommon gastrointestinal involvement. A rare case of malabsorption by intestinal amyloidosis is presented as initial manifestation of renal cell carcinoma, emphasizing the need for early recognition of these paraneoplastic conditions.
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PMID:Malabsorption Syndrome due to Intestinal Amyloidosis as Presentation of Renal Cell Carcinoma. 3296 46