Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nine thousand four hundred evaluable patients with breast complaints were consecutively studied from 1984 to 1994. Their ages ranged between 15-65 years with a median of 33 years. Five thousand, six hundred and seventy-five of these presented on account of pain and a mass was the cause of pain in 74%. Gross fibrocystic disease of the breast was the commonest tumour encountered in this group. Seven hundred and thirty eight patients were found to have 'referred' pain, and splenomegaly was the commonest cause of this 'referred' pain. At present, a simple breast biopsy remains the cheapest and most effective method of investigating this organ in most developing countries.
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PMID:How confounding are breast pain confounders? 944 93

Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and the biliary tract. Mutations in the PKHD1 gene are responsible for typical forms of autosomal recessive polycystic kidney disease. We have generated a mouse model with targeted mutation of Pkhd1 by disrupting exon 4, resulting in a mutant transcript with deletion of 66 codons and expression at approximately 30% of wild-type levels. Pkhd1(del4/del4) mice develop intrahepatic bile duct proliferation with progressive cyst formation and associated periportal fibrosis. In addition, these mice exhibit extrahepatic manifestations, including pancreatic cysts, splenomegaly, and common bile duct dilation. The kidneys are unaffected both histologically and functionally. Fibrocystin is expressed in the apical membranes and cilia of bile ducts and distal nephron segments but is absent from the proximal tubule. This pattern is unchanged in orthologous models of autosomal dominant polycystic kidney disease due to mutation in Pkd1 or Pkd2. Mutant fibrocystin in Pkhd1(del4/del4) mice also retains this expression pattern. The hypomorphic Pkhd1(del4/del4) mouse model provides evidence that reduced functional levels of fibrocystin are sufficient for cystogenesis and fibrosis in the liver and pancreas, but not the kidney, and supports the hypothesis of species-dependent differences in susceptibility of tissues to Pkhd1 mutations.
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PMID:Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. 1820 88

Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver transplantation. Hepatic complications of ARPKD typically present with signs of portal hypertension (splenomegaly and thrombocytopenia) or cholangitis. Liver disease in ARPKD does not always correlate with severity of renal disease. Management of ARPKD-related liver disease is largely treating specific symptoms, such as antibiotics for cholangitis or endoscopic treatment for variceal bleeding. If complications cannot be managed medically, liver transplantation may be indicated. This mini-review will discuss the clinical manifestations and management of children with ARPKD liver disease.
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PMID:Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease. 2861 71