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Monday, 19/10/2026 | 09:11 GMT+7

Diabetes in a 14-year-old Caused by Gene Mutation

Quang, 14, has diabetes despite no symptoms; gene testing revealed a mutation causing the disease.

Master of Science, Doctor Do Tien Son, from the Pediatrics Department at Tam Anh General Hospital Hanoi, recorded Quang as having grade one obesity and rapid weight gain during the summer vacation. Blood tests showed elevated fasting glucose and HbA1c (average blood sugar over two to three months). However, Quang did not exhibit typical symptoms of high blood sugar such as excessive thirst, frequent urination, weight loss, or fatigue.

Given that many relatives developed diabetes in their youth and middle age, the doctor recommended Quang undergo genetic testing for early-onset blood sugar disorders. Results confirmed Quang had monogenic diabetes MODY 2 (GCK-MODY) due to a GCK gene mutation.

MODY (Maturity-Onset Diabetes of the Young) is a group of monogenic diabetes types inherited in an autosomal dominant pattern, caused by mutations in a single gene related to pancreatic beta cell function. The disease typically begins in childhood, runs in families, and can be misdiagnosed as type one or type two diabetes.

Doctor Son examines Quang. Photo: Minh Vuong

Monogenic diabetes accounts for a small percentage of all diabetes cases, with causes and treatments differing from the common forms of the disease. Some MODY types lead to progressive hyperglycemia requiring medication, while others only cause mild hyperglycemia and do not necessitate blood sugar-lowering treatment.

GCK-MODY is a form of the disease caused by a GCK gene mutation. This gene encodes the enzyme glucokinase, an important component that helps pancreatic beta cells recognize glucose levels and regulate insulin secretion. In individuals with GCK-MODY, the pancreas still produces insulin but only increases secretion when blood glucose reaches higher levels. Fasting blood sugar is often slightly elevated and stable for a long time, without causing typical symptoms of hyperglycemia.

Doctors determined that Quang does not currently need blood sugar-lowering medication. The treatment goal is regular blood sugar monitoring and weight management. Children with obesity are at risk of co-occurring metabolic disorders, including type two diabetes.

Quang limits sugary drinks, snacks, processed foods, and fatty dishes. His meals prioritize green vegetables, fiber-rich foods, slow-absorbing starches, and high-quality protein sources such as eggs, fish, and meat, preferably boiled, steamed, or grilled instead of fried. Additionally, the child maintains daily physical activity and gets adequate sleep.

Doctors recommend that young people with elevated blood sugar or those with a strong family history of diabetes seek medical examination. Genetic testing can help identify the cause, enabling early detection and proactive health management.

Trinh Mai

Readers can send questions about children's diseases here for doctors to answer.
By VnExpress: https://vnexpress.net/dai-thao-duong-o-tuoi-14-do-dot-bien-gene-5133968.html
Tags: diabetes gene mutation blood sugar

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