Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies.
J Pediatr Endocrinol Metab
; 36(9): 879-885, 2023 Sep 26.
Article
en En
| MEDLINE
| ID: mdl-37434360
ABSTRACT
OBJECTIVES:
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. CASE PRESENTATION 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.CONCLUSIONS:
Five of these six children had features of FS, while the one with NBC1-A defect had isolated pRTA.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Raquitismo
/
Acidosis
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Acidosis Tubular Renal
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Síndrome de Fanconi
Tipo de estudio:
Etiology_studies
Límite:
Child
/
Humans
Idioma:
En
Año:
2023
Tipo del documento:
Article