Distal renal tubular acidosis with hereditary spherocytosis.
نویسندگان
چکیده
Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.
منابع مشابه
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and i...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 50 7 شماره
صفحات -
تاریخ انتشار 2013