A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis

Pediatr Blood Cancer. 2022 Nov;69(11):e29729. doi: 10.1002/pbc.29729. Epub 2022 Apr 20.

Authors

Pieri Giovanni Raimondo¹, Possenti Ilaria¹, Secco Andrea¹, Castorina Pierangela², Paglialonga Fabio³, Mina Tommaso⁴, Zecca Marco⁴, Felici Enrico¹

Affiliations

¹ Pediatric and Pediatric Emergency Unit, Children Hospital, Alessandria, Italy.
² Casa di Cura Igea, Milan, Italy.
³ Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione Ca' Grande IRRCS Ospedale Maggiore Policlinico, Milan, Italy.
⁴ Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

PMID: 35441494
DOI: 10.1002/pbc.29729

No abstract available

Publication types

Letter

MeSH terms

Acidosis, Renal Tubular* / genetics
Anion Exchange Protein 1, Erythrocyte / genetics
Child
Humans
Mutation
Spherocytosis, Hereditary* / complications
Spherocytosis, Hereditary* / genetics

Substances

Anion Exchange Protein 1, Erythrocyte
SLC4A1 protein, human