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 report on a case of factor VIII inhibitor-positive acquired hemophilia in which combined therapy of plasma exchange (PE) and steroids was effective. The patient, a 68-year-old man, had undergone hemodialysis since April 1998, due to chronic renal failure caused by diabetic nephropathy. The hemostasis of blood access sites gradually became difficult after the initiation of dialysis and the prolongation of activated partial thromboplastin time (APTT) (74.5 s), and a decrease in factor VIII (0.02%) and an abnormally high concentration of factor VIII inhibitor (111 U/ml) were found. Under the diagnosis of factor VIII inhibitor-positive acquired hemophilia, 3 consecutive PE were performed, followed by a large dose administration of gamma globulin. However, the effect of this therapy disappeared within 20 days. Then the PE therapy was performed again accompanied by pulse methylprednisolone therapy. After that, factor VIII inhibitor was suppressed and the patient's hemostatic defect continued to improve even after the reduction of the steroid dose. These results suggest that PE is very effective in treating factor VIII inhibitor-positive acquired hemophilia.
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PMID:A case of factor VIII inhibitor-positive acquired hemophilia treated by plasmapheresis. 1060 28

To investigate renal function in a group of patients with a history of haemophilia and haematuria. We reviewed 32 medical records of the patients with haemophilia and gross haematuria identified through a computerized haemophilia registry, from January 1993 to December 2004. In all patients but three (two refused to participate and one died) clinical and laboratory tests were performed by the nephrologist. One patient had chronic renal failure because of diabetic nephropathy. In two patients reduced renal function was detected by creatinine clearance measurements, and one of them had Duchenne muscular dystrophy. In four patients minimal proteinuria was diagnosed by the biuret method. Mild reduction in renal function of unknown cause was found in only one of the 29 patients tested.
Haemophilia 2007 Sep
PMID:Haematuria in patients with haemophilia and its influence on renal function and proteinuria. 1788 Apr 34

Factor V Leiden is a procoagulant mutation associated with venous and arterial thrombosis and pregnancy complications. Its high prevalence of 5% in Caucasians suggests that there are evolutionary benefits as well. Carriers are indeed reported to have various advantageous phenotypes related to haemostasis, inflammation and fertility: less acute blood loss; less menstrual blood loss; decreased risk of intracranial haemorrhage; milder phenotypes of haemophilia; higher survival in and lower susceptibility to severe sepsis; higher survival in acute respiratory distress syndrome; less severe diabetic nephropathy and higher fecundity in both men and women. Not all these associations come from high quality adequately powered studies and many have not been confirmed by further research. The evolutionary influence of the alleged associations varies and is difficult to establish, partly due to a shift over time in risk factors of the diseases concerned. For most of the phenotypes possible mechanistic explanations can be provided. The procoagulant phenotype and perhaps also certain pregnancy complications follow from activated protein C (APC) resistance. Elevated APC levels possibly mediate anti-inflammatory effects. Higher sperm counts and more successful embryo implantation seem to play a role in the increased fecundity.
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PMID:Evolution of Factor V Leiden. 2361 10