Idiopathic thrombocytopenic purpura and hypokalaemic dRTA with compensated haemolysis and striking acanthocytosis in a band 3 (SLC4A1/AE1) A858D homozygote
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The pleiotropic effects of mutations of the band 3 (SCL41/AE1) gene which result in familial distal renal tubular acidosis (dRTA) and red cell abnormalities are now well-established . The occurrence of dRTA and haemolytic anaemia in A858D homozygotes was first reported recently in children from India  and Oman . This letter describes certain unusual features in an Omani adolescent A858D homozygote.
A 17-year-old Omani Arab youth, son of a consanguineous marriage presented with complaints of bleeding gums and easy bruising for a few weeks. Also, he reported experiencing progressively severe muscle weakness which, after several weeks, culminated in his inability to rise out of bed. He was of normal stature and weight with mild scleral icterus, generalised skin purpura, buccal mucosal petechiae and mild splenomegaly; hypotonia, hyporeflexia and quadriparesis were additional findings.
KeywordsIdiopathic Thrombocytopenic Purpura Renal Tubular Acidosis Distal Renal Tubular Acidosis Medullary Nephrocalcinosis Hyperchloraemic Acidosis
The authors would like to express their appreciation of the help of Beverley Walsh, BSc in reviewing the literature.
Conflict of interest
The authors declare that they have no conflict of interest.
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