Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital disorder characterized by vascular nevus formation, deep venous thrombosis, varicosities, and hypertrophy of affected tissues. A patient with known thrombosis of his splanchnic circulation and visceral KTWS presented with life-threatening hemorrhage from rectosigmoid varices. Portosystemic shunting was not feasible. Endoscopic sclerosis, variceal ligation, and proctocolectomy were not possible due to the size and number of the varices. Previous treatment with epsilon-aminocaproic acid had been unsuccessful and complicated by thrombophlebitis. Conservative treatment with blood transfusions, cryoprecipitate, fresh frozen plasma, vitamin K, propanolol, and somatostatin analog failed to stop the bleeding. The patient was given the antifibrinolytic agent, tranexamic acid, with cessation of his hemorrhage. Serial thromboelastograms confirmed improved reaction time, coagulation time, clot formation rate, and maximum amplitude. We conclude that tranexamic acid may be a useful adjunct in the medical treatment of high-risk patients with KTWS and other vascular nevi complicated by coagulopathy.
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PMID:Successful management of visceral Klippel-Trenaunay-Weber syndrome with the antifibrinolytic agent tranexamic acid (cyclocapron): a case report. 954 37

The understanding of hereditary vascular anomalies was hampered for a long time by unclear und unspecific terminology. Today, the classification of the International Society for the Study of Vascular Anomalies (ISSVA) differentiates between vascular tumours (mostly infantile haemangioma) with active endothelial proliferation and regression and vascular malformations (VM), which are defects of the vascular morphogenesis and are distinguished in predominantly venous, arterial, capillary, lymphatic, arteriovenous or combined VM. Symptoms are pain, swelling and restricted movement, accompanied by skin signs like dys-plastic veins and capillary VM (naevus flammeus). Thrombophlebitis and chronic venous insufficiency are related to venous VM. Arteriovenous VM are progressive and can cause ischaemic necroses, in rare cases even a high-output cardiac fail-ure. Lymphatic VM lead to localised swelling, in the long run often to recurrent erysipelas and lymphorroea. Primary imaging is provided by -ul-trasound including flow measurements. Mor-phol-ogy and organ involvement is best delineated by magnetic resonance imaging. Phlebography is used to image deep venous system anomalies and is always accompanied by varicography of the dysplastic parts of the venous VM. Digital subtraction angiography is performed to demon-strate the flow pattern in feeding arteries, the nidus and the drainage veins of arteriovenous VM. Besides size and localisation the prognosis of the patients is determined by the pressure (the high-er the pressure, the poorer the prognosis) and the flow rate (the higher the flow rate, the poorer the prognosis) in the VM. Diagnosis and treatment of these rare diseases are best performed in special-ised, interdisciplinary centres.
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PMID:[Hereditary vascular malformations: classification, symptoms, diagnostics and prognosis]. 2131 59

We report a 28-year-old mole with a hereditary nephritis (Alport Syndrome) on hemodialysis for 5 years, who received a kidney graft from a deceased donor. Cyclosporine (CsA), mycophenolate mofetil (MMF) and steroids were prescribed. In the postoperative period the patient had thrombophlebitis and diarrhea. A CT sean showed splenomegaly, ascites, bilateral pleural effusion and bowel edema. Laboratory showed hypoalbuminemia, increased C reactive protein (CRP) and panhypogammaglobulinemia. At day 32 after transplantation, an acute rejection (Banff II b) was diagnosed and treated with methylprednisolone, replacing CsA by tacrolimus. The acute rejection was controlled but six days later, high fever, pancytopenia and hyperferritinemia appeared. A bone marrow smear showed numerous histiocytes and hemophagocytosis. Hemophagocytic syndrome was diagnosed. MMF and tacrolimus were withdrawn and CsA was reinstituted. Fever fell quickly, CPR normalized at 24 hours and white blood cell count at 72 hours. Days later, the concentrations of albumin, immunoglobulins and hematological parameters normalized. The patient was discharged on day 57 after admission in good condition.
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PMID:[Hemophagocytic syndrome after kidney transplant in a patient with hereditary nephritis. Report of one case]. 2390 Mar 74