Bhopal: Persistent poor growth and bone problems in children should not be ignored as they could point to a rare kidney disorder that often goes undiagnosed for years, doctors at AIIMS Bhopal have warned.
A study led by AIIMS Bhopal, conducted under the Indian Council of Medical Research (ICMR) Task Force on Rare Diseases, covered 91 children suffering from distal renal tubular acidosis (dRTA), a genetic disorder in which the kidneys fail to properly remove acid from the body. AIIMS Bhopal was the coordinating centre for the multi-centre study.
Researchers found disease-causing or potentially disease-causing genetic changes in 61.5% of the children. The study also identified 12 genetic variants that had not been reported earlier.
A key finding of the study was the long gap between the start of symptoms and diagnosis. While symptoms appeared at a median age of 1.5 years, the children were diagnosed at a median age of 8.8 years.
The impact of this delay was significant. About 76% of the children had short stature, 57% had rickets, 39% had bone deformities, and 75% had calcium deposits in the kidneys, the study found.
The study also noted improvements with timely treatment. Children who received appropriate alkali treatment showed significant improvement in growth over two years, though many remained shorter than expected for their age.
The study was led by Dr Girish Chandra Bhatt, Dr Arvind Bagga, Dr Sriram Krishnamurthy, Dr Aditi Sinha, Dr Aliza Mittal, Dr Manish Kumar and Dr Nagarjun Vijay, along with experts from medical centres across the country.
Doctors said persistent poor growth, excessive thirst, frequent urination, rickets, bone problems or unexplained low potassium levels should not be ignored. Such symptoms do not necessarily mean a child has dRTA, but they need medical evaluation, they said. Early recognition of the disease can help start treatment before complications become severe, the study noted, according to a press release issued by the institute.
