Título del libro: Renal Tubular Acidosis In Children: New Insights In Diagnosis And Treatment
Título del capítulo: Genetic origin of renal tubular acidosis
LEONILA IRMA LAURA ESCOBAR PEREZ;
Autores externos:
Idioma:
Año de publicación:
2022
Palabras clave:
AE1; Aldosteronism; Carbonic anhydrase; Fanconi; RTA, renal tubular acidosis, NBCe1; V-H+ATPase
Resumen:
We review the familial forms of proximal and distal renal tubular acidosis (pRTA and dRTA). Recessive pRTA with ocular and central nervous system abnormalities is caused by loss-of-function mutations in the basolateral membrane Na-HCO3- cotransporter NBCe1/SLC4A4. Recessive dRTA with deafness is caused by loss-of-function mutations in either of the two subunits of the vacuolar H+-ATPase (V-ATPase) of the type A intercalated cells (A-ICs): the cytoplasmic B1 and the transmembrane a4 subunits. Dominant and recessive forms of dRTA are also caused by loss-of-function mutations in the basolateral membrane AE1 Cl-/HCO3- exchanger of the A-ICs. Mutations in the transcription factor FOXI1 and the 72 tryptophan-aspartate repeat domain (WDR72) also develop dRTA. Recessive mixed p-dRTA is caused by loss-of-function mutations of the cytoplasmic carbonic anhydrase II. Hyperkalemic dRTA, accompanied by hypertension (pseudohypoaldosteronism type 2), is caused by mutations in the kinases WNK1 and WNK4 or the ubiquitin ligase complexes KLHL3 - cullin 3. Hyperkalemic dRTA with volume depletion is caused by loss-of-function mutations in genes encoding the mineralocorticoid receptor or the epithelial sodium channel (ENaC) subunits. © The Author(s), under exclusive license to Springer Nature Switzerland AG 2022.
Entidades citadas de la UNAM:
ISBN:
9783030919405
Editorial:
Springer International Publishing Nombre de la publicación:
Genetic origin of renal tubular acidosis
Página inicial:
57
Página final:
70
