Thiamine responsive pulmonary hypertension: case series
نویسندگان
چکیده
منابع مشابه
thiamine– 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.
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 کاملA case series of six children with primary pulmonary hypertension.
INTRODUCTION Primary pulmonary hypertension is an uncommon but serious disease in children. Management is difficult despite recent advances in pharmacotherapy. CLINICAL PICTURE We reviewed patients with this condition with respect to their presenting symptoms, investigations, treatment and outcome. TREATMENT These children were treated with individualised combinations of oxygen, diuretics a...
متن کاملA rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
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.
متن کاملThalassemia Associated Pulmonary Hypertension
Cardiac disease is the main cause of death in both forms of thalassemia; thalassemia major (TM) and thalassemia intermedia (TI). Pulmonary hypertension (PH) is one of the cardiopulmonary morbidities with high mortality that, if not treated, may trigger right-sided heart failure and premature death. PH is defined as a mean pulmonary artery pressure of ≥25 mmHg at rest or ≥30 mmHg during exercise...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2021
ISSN: 2349-3291,2349-3283
DOI: 10.18203/2349-3291.ijcp20212056