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Tuesday, 5/5/2026 | 00:07 GMT+7

Boy experiences stunted growth due to genetic Bartter syndrome

Hung, 13, was diagnosed with a micronutrient deficiency linked to Bartter syndrome, a genetic kidney-endocrine disorder, after doctors noted his short stature compared to World Health Organization standards.

Hung, 1,37 m tall and weighing 26 kg, falls below the World Health Organization (WHO) average height and weight for his age. Specialist Doctor Level I Nguyen Dong Bao Chau, from the Pediatrics Department at Tam Anh General Hospital, Ho Chi Minh City, noted that 13-year-old boys typically stand 1,56 m tall and weigh around 44 kg.

Blood biochemistry and urine tests, along with a kidney ultrasound, revealed Hung had simultaneous deficiencies in three essential micronutrients: potassium, calcium, and magnesium. Doctor Chau diagnosed him with Bartter syndrome, complicated by kidney calcification and delayed physical development.

"Bartter is a kidney-endocrine disorder affecting approximately 1,2/1,000,000 children", Doctor Chau explained. This autosomal recessive genetic disease occurs when a child inherits the disease gene from both parents.

In children with Bartter syndrome, the kidneys fail to retain essential electrolytes, resulting in electrolyte leakage. This chronic imbalance leads to fatigue, muscle weakness, and impacts cardiovascular, nervous system, and height development. Over time, calcium deposits in the kidneys cause calcification and impaired kidney function.

Due to his older sister's condition, Hung received an early diagnosis and began electrolyte supplementation as a child. However, during puberty, a period of heightened micronutrient demand, his electrolyte imbalance worsened, making symptoms more pronounced. Hung experienced fatigue, a poor appetite, difficulty with physical exertion, and delayed development compared to peers.

Doctor Chau attributed Hung's severe deficiency to his current pubertal stage, where increased micronutrient needs were not met by his earlier supplementation regimen.

Potassium, a primary cellular electrolyte, maintains electrolyte balance, supports muscle development, aids nerve transmission, and stabilizes blood pressure. Its deficiency can cause muscle fatigue, cramps, weakness, and even heart rhythm disorders, impacting kidney function. Calcium forms the foundation of bones and teeth, and is vital for muscle contraction, nerve transmission, and blood clotting. Children deficient in calcium risk rickets, early osteoporosis, and stunted growth. Magnesium helps regulate potassium and calcium activity.

Doctor Chau adjusted Hung's oral potassium, calcium, and magnesium supplements and prescribed medication to reduce renal electrolyte excretion. Additionally, she recommended a personalized nutrition plan tailored to his growth needs, combined with appropriate physical activity.

After one month on the treatment plan, Hung's blood electrolyte levels gradually improved. He can now engage in moderate physical activities such as walking and cycling.

Doctor Chau explaining the condition to Hung and his family. Photo: Tam Anh General Hospital

Bartter syndrome currently lacks a definitive cure, with treatment focused on maintaining lifelong electrolyte balance. Children with the condition must adhere to prescribed medication and attend regular follow-up appointments for early detection and management of abnormalities. Arbitrarily stopping or self-adjusting medication can lead to acute hypokalemia, causing heart rhythm disorders, severe muscle weakness, or even life-threatening complications.

Parents should seek immediate medical attention if a child exhibits prolonged fatigue, labored breathing, sudden severe muscle weakness, rapid or irregular heartbeat, strong muscle contractions, or loss of consciousness.

Gian Don

*Character's name has been changed

Readers can submit questions about neonatology here for doctors to answer.
By VnExpress: https://vnexpress.net/be-trai-cham-lon-do-hoi-chung-di-truyen-bartter-5069738.html
Tags: genetic disease micronutrient deficiency children

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