A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
نویسندگان
چکیده
A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
منابع مشابه
معرفی یک بیمار مبتلا به سندرم کم خونی پاسخ دهنده به تیامین
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA) and deafness (D). Neutropenia and thrombocytopenia are also present. We report a 7 month old girl with congenital macrocytic anemia a rare clin...
متن کاملNovel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
متن کاملDoes Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-mo...
متن کاملA novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading...
متن کاملRight ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: a case report.
Thiamine or Vitamin B1 is an essential cofactor for many metabolic processes in numerous tissues. Thiamine-Responsive Megaloblastic Anemia Syndrome is a genetic disorder affecting thiamine transportation with consequent bone marrow, pancreatic, neurological, and cardiac functional and developmental anomalies. There are limited reports of the cardiac manifestations of this syndrome. Here, we pre...
متن کاملذخیره 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 ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of Ayub Medical College, Abbottabad : JAMC
دوره 20 3 شماره
صفحات -
تاریخ انتشار 2008