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Phenotypic variability in distal acidification defects associated with WDR72 mutations
Phenotypic variability in distal acidification defects associated with WDR72 mutations
- 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
- Subjects :
- Vacuolar Proton-Translocating ATPases
medicine.medical_specialty
030232 urology & nephrology
030204 cardiovascular system & hematology
Gastroenterology
Renal tubular acidosis
03 medical and health sciences
0302 clinical medicine
Distal renal tubular acidosis
Polyuria
Furosemide
Internal medicine
medicine
Humans
Amelogenesis imperfecta
Hypercalciuria
business.industry
Proteins
Fanconi syndrome
Forkhead Transcription Factors
Metabolic acidosis
Acidosis, Renal Tubular
Hydrogen-Ion Concentration
medicine.disease
Bicarbonates
Biological Variation, Population
Nephrology
Fludrocortisone
Mutation
Pediatrics, Perinatology and Child Health
Nephrocalcinosis
medicine.symptom
Acidosis
business
Subjects
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