Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acidosis, Renal Tubular / complications*
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Acidosis, Renal Tubular / genetics
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Anion Exchange Protein 1, Erythrocyte / genetics
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Ankyrins / deficiency*
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Ankyrins / genetics
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Child, Preschool
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DNA Mutational Analysis
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Female
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Humans
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Infant
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Male
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Spherocytosis, Hereditary / complications*
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Spherocytosis, Hereditary / genetics
Substances
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Anion Exchange Protein 1, Erythrocyte
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Ankyrins