Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies
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Pankaj Singhania
,
Abhranil Dhar
and
Ajitesh Roy
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.
Acknowledgments
We acknowledge all our patients and their family members. We also acknowledge the hospital staff and nursing personnel who took care of the patients while they were admitted with us.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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Articles in the same Issue
- Frontmatter
- Review
- Systematic literature review of the epidemiology of glycogen storage disease type 1a
- Original Articles
- Excessive weight gain among preschool children during the COVID-19 lockdown in China: a retrospective observational study
- Longitudinal assessment of bone health index as a measure of bone health in short-statured children before and during treatment with recombinant growth hormone
- First results of the growth disorders related twinning programme Partners4Growth implemented at the tertiary university pediatric endocrinology clinics in Bulgaria
- Predictive factors of catch-up growth in term, small for gestational age infants: a two-year prospective observational study in Algeria
- Glucose levels are not the same for everyone: a real-world big data study evaluating fasting serum glucose levels by sex and age among children
- The status and childcare management of overweight and obesity among preschool children in Hangzhou
- The relationship between metabolic syndrome criteria and pentraxin-3 levels in children
- Case Reports
- Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency
- Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies
- Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report
- A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia
- Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan
- Letter to the Editor
- CD163+ and CD14+ macrophages are increased in obese children
