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A novel SLC4A1 mutation in a 7 years-old Italian boy with hereditary spherocytosis and distal renal tubular acidosis
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  • Ilaria Possenti,
  • Giovanni Raimondo Pieri,
  • Andrea Secco,
  • Pierangela Castorina,
  • Enrico Felici
Ilaria Possenti
Azienda Ospedaliera Nazionale Santi Antonio e Biagio e Cesare Arrigo Alessandria
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Giovanni Raimondo Pieri
Azienda Ospedaliera Nazionale Santi Antonio e Biagio e Cesare Arrigo Alessandria

Corresponding Author:[email protected]

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Andrea Secco
Azienda Ospedaliera Nazionale Santi Antonio e Biagio e Cesare Arrigo Alessandria
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Pierangela Castorina
Casa di Cura Igea
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Enrico Felici
Azienda Ospedaliera Nazionale Santi Antonio e Biagio e Cesare Arrigo Alessandria
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Abstract

Hereditary spherocytosis (HS) and hereditary distal renal tubular acidosis (dRTA) could share a common pathogenesis, related to defects in band 3 anion exchanger 1 (AE1), encoded by the human solute carrier family 4 anion exchanger member 1 (SLC4A1) gene. SLC4A1 is expressed both in the red blood cell membrane (eAE1) and in distal tubules of the kidney (kAE1), its mutations may result in red blood cells dysmorphology and impaired urinary acidification. We describe a 7 years-old Italian boy with coexisting HS and dRTA caused by a novel SLC4A1 mutation, confirming that HS and dRTA could be part of a multisystemic disease requiring multidisciplinary approach.