Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies.
proximal
renal tubular acidosis
rickets
short stature
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
26 Sep 2023
26 Sep 2023
Historique:
received:
08
04
2023
accepted:
23
06
2023
medline:
6
9
2023
pubmed:
12
7
2023
entrez:
12
7
2023
Statut:
epublish
Résumé
Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. The biochemical hallmark of pRTA is hyperchloremic metabolic acidosis with a normal anion gap, accompanied by appropriate acidification of the urine (simultaneous urine pH <5.3). Isolated defects in bicarbonate transport are rare, and pRTA is more often associated with Fanconi syndrome (FS), which is characterized by urinary loss of phosphate, uric acid, glucose, amino acids, low-molecular-weight proteins, and bicarbonate. Children with pRTA may present with rickets, but pRTA is often overlooked as an underlying cause of this condition. We report six children with rickets and short stature due to pRTA. One case was idiopathic, while the remaining five had a specific underlying condition: Fanconi-Bickel syndrome, Dent's disease, nephropathic cystinosis, type 1 tyrosinemia, and sodium-bicarbonate cotransporter 1-A (NBC1-A) defect. Five of these six children had features of FS, while the one with NBC1-A defect had isolated pRTA.
Identifiants
pubmed: 37434360
pii: jpem-2023-0155
doi: 10.1515/jpem-2023-0155
doi:
Substances chimiques
Bicarbonates
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
879-885Informations de copyright
© 2023 Walter de Gruyter GmbH, Berlin/Boston.
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