Rare Coagulation Factor Deficiencies Associated with Congenital AbnormalitiesRickets Due to Parenteral Ferrous Carboxymaltose in a Young Man with Crohn Disease and Iron Deficiency: A Case Report and Review of Literature

نویسندگان

  • Baris Malbora
  • Murat Derbent
  • Namik Ozbek
چکیده

Among bleeding disorders, hemophilia A, hemophilia B and von Willebrand diseases are the most commonly occurring, whereas deficiencies of other coagulation factors are rare worldwide. Unlike hemophilias, which are X-chromosome linked disorders, the inheritance pattern of the rare coagulation factor deficiencies is generally autosomal recessive. In literature, association of these factor deficiencies and congenital abnormalities are especially rare. In this study, we present our cases having both rare factor deficiencies and congenital abnormalities, including Cenani-Lenz syndrome and Duane retraction syndrome.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Hypophosphataemic Rickets Due to Parenteral Ferrous Carboxymaltose in a Young Man with Crohn Disease and Iron Deficiency: A Case Report and Review of Literature

We present the case of recurrent fractures and hypophosphataemic rickets that occurred in a young man who received parenteral ferrous carboxymaltose (FCM) for chronic iron deficiency associated with Crohn disease. The effect of FCM on bone and mineral metabolism and the frequency of this disorder are discussed.

متن کامل

Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature

Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...

متن کامل

Coagulation Abnormalities in Pediatric Patients with Congenital Heart Disease: A Literature Review

 It has been recognized that patients with Cyanotic Congenital Heart Disease (CCHD) show significant bleeding tendency which can be secondary to coagulopathies in these patients. Some coagulation abnormalities are thrombocytopenia, factor deficiencies, fibrinolysis and Disseminated Intravascular Coagulation  (DIC). According to high prevalence of CCHD and major operations in theses patients, th...

متن کامل

Factor XIII deficiency: a review of literature

Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...

متن کامل

A case report of temporary and acquired vitamin K-dependent clotting factor deficiency without any response to administrated vitamin K

Abstract Background and Objectives Vitamin K-dependent clotting factor deficiency (VKCFD) is usually an acquired problem due to liver disease, malabsorption, and overdose of warfarin.  In the present paper the significance and role of vitamin K-dependent coagulation factors in menorrhagia were evaluated.   Case We present a rare case of 43 year woman with acquired vitamin K deficiency and se...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2017