A TEENAGER was recently diagnosed with Bartter syndrome, a rare inherited disease, at Shenzhen Hospital of Southern Medical University, the Southern Metropolis Daily reported.

The teenager, identified as Xiaolin, 15, was much shorter, and weighed nearly 10 kilograms lighter, than his peers. Two years ago, he began to feel numbness and discomfort in his face and suffer from recurrent convulsions.

An examination in another hopital showed that he had low blood calcium and he was diagnosed with hypocalcemia.

However, earlier this year, he suffered convulsions on his way to school. Although Xiaolin had been taking calcium supplements and his calcium index was normal, he still felt tired and weak, so his parents took him to the endocrinology department of Shenzhen Hospital of Southern Medical University.

Xu Lingling, director of the endocrinology department, looked at Xiaolin’s medical records and found that besides low blood calcium, Xiaolin also had low blood potassium. She suspected that the convulsions might not have been caused by low calcium.

The hospital conducted a hydrochlorothiazide test on Xiaolin and confirmed that he had neonatal Bartter syndrome type 2, which is caused by a genetic mutation in the renal tubules.

After a series of medications, the results of Xiaolin’s re-examination were close to normal. He no longer suffered symptoms like convulsions or fatigue.

“The disease seriously affects children’s growth and may also affect intelligence. Early diagnosis and intervention can minimize the impact of the disease on children,” Xu said.

Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop OF Henle, which can occur at any age but mostly occurs in children before the age of 5. It is characterized by low potassium levels, increased blood pH and normal to low blood pressure. (Zhang Yu)