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Rare Kidney Disorder Hides in Children's Growth Issues
22 Aug
Summary
- A rare kidney disorder often goes undiagnosed for years in children.
- Study found disease-causing genetic changes in over 60% of affected children.
- Delayed diagnosis led to significant health complications like short stature and rickets.
Doctors at AIIMS Bhopal have issued a warning regarding persistent poor growth and bone issues in children, which could signify a rare kidney disorder, distal renal tubular acidosis (dRTA). This genetic condition, where kidneys struggle to remove acid, often remains undiagnosed for extended periods.
A multi-centre study coordinated by AIIMS Bhopal involving 91 children revealed disease-causing genetic changes in over 60% of participants. Researchers identified 12 new genetic variants associated with the disorder.
The study highlighted a critical delay in diagnosis, with a median gap of over seven years between symptom appearance and confirmation. This delay resulted in significant health issues for the children, including short stature, rickets, bone deformities, and kidney calcification.
However, the research also indicated positive outcomes with timely intervention. Children receiving appropriate alkali treatment demonstrated notable growth improvements over two years. Doctors emphasize that symptoms like poor growth, excessive thirst, frequent urination, or bone problems warrant medical evaluation for early detection and management of dRTA.
