Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.
Children
Distal kidney tubular acidosis
Genetic analysis
Long-term prognosis
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
14
04
2020
accepted:
18
06
2020
revised:
16
06
2020
pubmed:
3
7
2020
medline:
3
9
2021
entrez:
3
7
2020
Statut:
ppublish
Résumé
The present study aimed to assess genotype-phenotype correlations with long-term prognosis in children with distal kidney tubular acidosis (dKTA). The kidney function of children with dKTA could be impaired in the long-term. Thirty-one children with dKTA from 23 families were included in the present study. Demographic features, growth parameters, clinical manifestations, follow-up results, and genetic analysis results of the patients were recorded. Eighteen children (58.1%) were male. The median age at diagnosis was 3 months. The median follow-up period was 77 months and the longest was 23.5 years. Eight (28.8%) patients had chronic kidney disease (CKD) stage 2 or 3. Three patients aged 24, 23, and 19 years had CKD stage 3 with an estimated glomerular filtration rate of 54, 57, and 48 mL/min/1.73 m Patients with dKTA usually have a good clinical prognosis in childhood with appropriate treatment; however, dRTA is characterized by deterioration of kidney function in adulthood, particularly after puberty.
Sections du résumé
BACKGROUND
The present study aimed to assess genotype-phenotype correlations with long-term prognosis in children with distal kidney tubular acidosis (dKTA). The kidney function of children with dKTA could be impaired in the long-term.
METHODS
Thirty-one children with dKTA from 23 families were included in the present study. Demographic features, growth parameters, clinical manifestations, follow-up results, and genetic analysis results of the patients were recorded.
RESULTS
Eighteen children (58.1%) were male. The median age at diagnosis was 3 months. The median follow-up period was 77 months and the longest was 23.5 years. Eight (28.8%) patients had chronic kidney disease (CKD) stage 2 or 3. Three patients aged 24, 23, and 19 years had CKD stage 3 with an estimated glomerular filtration rate of 54, 57, and 48 mL/min/1.73 m
CONCLUSION
Patients with dKTA usually have a good clinical prognosis in childhood with appropriate treatment; however, dRTA is characterized by deterioration of kidney function in adulthood, particularly after puberty.
Identifiants
pubmed: 32613277
doi: 10.1007/s00467-020-04685-2
pii: 10.1007/s00467-020-04685-2
doi:
Substances chimiques
ATP6V1B1 protein, human
0
Anion Exchange Protein 1, Erythrocyte
0
Genetic Markers
0
SLC4A1 protein, human
0
ATP6V0A4 protein, human
EC 3.6.1.-
Vacuolar Proton-Translocating ATPases
EC 3.6.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM