Journal
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume 36, Issue 9, Pages 879-885Publisher
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpem-2023-0155
Keywords
proximal; renal tubular acidosis; rickets; short stature
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Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. It is often associated with Fanconi syndrome and can present with rickets in children. We report six cases of rickets and short stature due to pRTA, with one case being idiopathic and the rest having specific underlying conditions.
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.
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