The journey to discover a rare disease from small abnormalities in a 12-year-old child

From the smallest abnormalities, doctors at Quang Nam Regional General Hospital (Da Nang City) discovered a rare disease in the child and brought the "little life" back to safety.

In early December, doctors from the Pediatrics Department - Quang Nam Regional General Hospital successfully treated a child with "type I renal tubular acidosis" - a rare and easily "missed" disease in children.

Behind the case is the tireless efforts of the medical team, and the overwhelming happiness of bringing a "little life" back to safety.

A 12-year-old girl (residing in Nam Phuoc commune, Da Nang city) was admitted to the hospital with weak limbs, unable to stand on her own, accompanied by vomiting, bloating and prolonged fatigue. The test results "startled" the doctors when the child's potassium concentration was only 1.7 mmol/L (normal range is 3.5 - 5.0 mmol/L) - a level that can cause heart rhythm disturbances, even life-threatening at any time.

The electrocardiogram showed a slow heart rate, flattened T waves, and the appearance of U waves – typical signs of severe hypokalemia. What was puzzling was that the child had been completely healthy before, had not suffered from diarrhea or prolonged vomiting, and had not taken any medications that caused hypokalemia.

At this point, the doctors had to treat the symptoms while looking for the cause. Immediately upon admission, the child was given intravenous potassium. After 48 hours of stress, the little body gradually improved significantly, the child walked on his own, ate better, and no longer vomited or bloated. But that was just…the beginning.

Dr. Thanh recommends that signs such as muscle weakness, prolonged fatigue or frequent cramps in children should not be ignored.

To find the root cause, the doctor conducted in-depth tests. The results of the arterial blood gas showed that the child had metabolic acidosis (a sharp decrease in blood bicarbonate levels) but the urine was alkaline. This was also the key for the doctor to think of the rare disease "type I renal tubular acidosis" that is often "masked" by vague symptoms.

After determining the exact cause, the doctors began treating the child by supplementing potassium and sodium bicarbonate orally, gradually helping the body re-establish its acid-base balance. In the following days, each small improvement in test results was enough to make the team breathe a sigh of relief, because it was a sign that the little body was gradually returning to a healthy orbit. When the child was completely stable, walking normally and being discharged from the hospital, joy was overwhelming.

Dr. Tran Thi Thu Thao said that renal tubular acidosis is a rare disease in children, which can be genetic or acquired after autoimmune diseases or drugs. If not detected early, the disease will lead to chronic acidosis, causing children to grow slowly, become stunted, susceptible to kidney stones and prolonged hypokalemia, seriously affecting their health.

"The important thing is early detection and proper treatment. When treated promptly, children can fully recover, live healthy lives and develop normally like their peers," Dr. Thao shared.

According to Dr. Phung Huu Thanh - Deputy Head of Pediatrics Department, Quang Nam Regional General Hospital, this case is a reminder for parents that signs such as muscle weakness, prolonged fatigue or frequent cramps in children should not be ignored. These can be signs of serious electrolyte disorders. Early examination and timely testing will help detect the disease before dangerous complications occur.

According to Dr. Thanh, parents need to pay attention to monitor their children's unusual symptoms such as: fatigue, muscle weakness, frequent falls, difficulty walking, nausea, loss of appetite, prolonged bloating, frequent urination, thirst or poor weight gain compared to friends... need to take the child to a medical facility with a pediatric department for early examination. "Although renal tubular acidosis is rare, it can be completely treated if detected promptly," Dr. Thanh added.

Source: https://suckhoedoisong.vn/hanh-trinh-tim-ra-can-benh-hiem-tu-nhung-bat-thuong-nho-o-be-12-tuoi-169251210104110252.htm