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Phenotypic variability in distal acidification defects associated with WDR72 mutations

Phenotypic variability in distal acidification defects associated with WDR72 mutations

Authors :
Pankaj Hari
Priyanka Khandelwal
Vijay Prakash Mathur
Arvind Bagga
Aditi Sinha
Thenral S Geetha
Mahesh
Sandhya Nair
Sumantra Raut
Source :
Pediatric Nephrology. 36:881-887
Publication Year :
2020
Publisher :
Springer Science and Business Media LLC, 2020.

Abstract

Distal renal tubular acidosis (RTA) is typically caused by defects in ATP6V0A4, ATP6V1B1, and SLC4A1, accounting for 60–80% of patients. Genes recently implicated include FOXI1, ATP6V1C2, and WDR72, of which WDR72 is associated with dental enamel defects. We describe 4 patients, from three unrelated consanguineous families, with RTA and amelogenesis imperfecta. Distal tubular acidification was evaluated by furosemide-fludrocortisone test, urine-to-blood PCO2 gradient and fractional excretion of bicarbonate. Exome sequencing was performed using a panel of genes implicated in human disease. Patients had polyuria, hypokalemia, hypercalciuria, and nephrocalcinosis, but metabolic acidosis varied in severity. Although all patients acidified urine to pH

Details

ISSN :
1432198X and 0931041X
Volume :
36
Database :
OpenAIRE
Journal :
Pediatric Nephrology
Accession number :
edsair.doi.dedup.....fb58a43cd2a7463cbdb53dc8f8a66c3a
Full Text :
https://doi.org/10.1007/s00467-020-04747-5