Distal renal tubular acidosis with hereditary spherocytosis.
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.
Pediatric Nephrology Division, Department of Pediatrics, Christian Medical College, Vellore, India. rajivsinha_in@yahoo.com
Rajiv
R
Sinha
Indira
I
Agarwal
Waleed M
WM
Bawazir
Lesley J
LJ
Bruce
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics; D017487:Ankyrins / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013103:Spherocytosis, Hereditary / Q000150:complications* / Q000235:genetics
D001457:Anion Exchange Protein 1, Erythrocyte; D017487:Ankyrins