Related Experiment Video
Updated: Dec 25, 2025
A Semi-Automated and Reproducible Biological-Based Method to Quantify Calcium Deposition In Vitro
Published on: June 2, 2022
Etiological Profile of Nephrocalcinosis in Children from Southern India
Kagnur Ramya1, Sriram Krishnamurthy2, Palanisamy Sivamurukan1
1Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
Insights
Distal renal tubular acidosis, primary hyperoxaluria, and Bartter syndrome are common causes of nephrocalcinosis in children. Early diagnosis and management can improve kidney function over time.
Area of Science:
- Pediatric Nephrology
- Genetics
- Renal Physiology
Background:
- Nephrocalcinosis is a condition characterized by calcium deposition in the renal parenchyma.
- Understanding the diverse etiologies and clinical presentations is crucial for effective management in pediatric populations.
Purpose of the Study:
- To investigate the etiological profile of nephrocalcinosis in patients under 18 years old.
- To describe the clinical manifestations and outcomes associated with pediatric nephrocalcinosis.
Main Methods:
- Observational study of 54 pediatric patients with nephrocalcinosis.
- Evaluation of etiology, clinical signs, estimated glomerular filtration rate (eGFR), and growth parameters.
- Genetic analysis was performed for specific cases, including primary hyperoxaluria.
Main Results:
- Distal renal tubular acidosis (33.3%), primary hyperoxaluria (16.7%), and Bartter syndrome (13%) were the most frequent causes.
- Common clinical features included failure to thrive (53.7%) and polyuria (44.4%).
- Mean eGFR improved significantly from 59 to 77 mL/min/1.73m² after a median follow-up of 24 months (P<0.01).
Conclusions:
- Distal RTA, primary hyperoxaluria, and Bartter syndrome are leading etiologies of nephrocalcinosis in this pediatric cohort.
- Consanguinity was noted in 50% of cases, suggesting a potential genetic component.
- The findings highlight the importance of comprehensive etiological investigation and monitoring of renal function in pediatric nephrocalcinosis.
Objective:
To study the etiological profile and patterns of clinical presentation of nephrocalcinosis.
Methods:
In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded.
Results:
The etiology of nephrocalcinosis (n=54) included distal renal tubular acidosis (n=18; 33.3%), primary hyperoxaluria (n=9; 16.7%), Bartter syndrome (n=7; 13%), Dent disease (n=4; 7.4%), cystinosis, familial hypomagnesemia with hypercalciuria and idiopathic hypercalcemia of infancy (2 each). Idiopathic nephrocalcinosis was seen in 5 (9.3%) children. Clinical features included failure to thrive (53.7%), polyuria (44.4%), bony deformities (31.5%) and hypokalemic paralysis (11.1%). At a median (IQR) follow-up of 24 (8, 56) months, the mean (SD) eGFR had improved from 59 (25.5) to 77 (31.48) mL/min/1.73m2 (P<0.01). Consanguinity was present in 50% (27/54). Genetic analysis in 5 primary hyperoxaluria cases confirmed AGXT mutations in 4; and GRHPR mutation in 1 child.
Conclusions:
Distal RTA, primary hyperoxaluria and Bartter syndrome were the common etiologies of nephrocalcinosis in our patient population.
More Related Videos
Related Concept Videos
01:28Urinary Tract Calculi I: Introduction
01:26Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
01:27Urinary Tract Calculi IV: Nutrition Therapy and Prevention
01:24Nephrotic Syndrome I : Introduction
01:24Chronic Kidney Disease II: Clinical Manifestations
01:26Nephrotic Syndrome II : Assessment and Medical Management