A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Auto-immune Diabetes
نویسندگان
چکیده
منابع مشابه
Thiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
متن کاملthiamine– responsive megaloblastic anemia syndrome
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 clinic...
متن کاملthiamine–responsive megaloblastic anemia, sensorineural deafness and diabetes mellitus
abstract- the syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. the previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. the features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependen...
متن کاملThiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?
A 6-year-old girl is described who has congenital megaloblastic anemia which completely responded only to pharmacologic doses of thiamine. Relapse was observed twice when the drug was discontinued. The reintroduction of thiamine caused a prompt reticulocytosis and a rise in hemoglobin concentration. Other abnormalities included latent diabetes mellitus, sensorineural deafness, and "situs invers...
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....
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ژورنال
عنوان ژورنال: Experimental and Clinical Endocrinology & Diabetes Reports
سال: 2017
ISSN: 2196-7407
DOI: 10.1055/s-0035-1549874