CSDL Bài trích Báo - Tạp chí
chủ đề: Gene expression--Research--Methodology
1 Delayed diagnosis of Hyperinsulinism Hyperammonemia Syndrome: A case report / Can Thi Bich Ngoc, Nguyen Ngoc Khanh // .- 2025 .- Tập 190 - Số 5E16 .- P. 258-263 .- 610
Hyperinsulinism Hyperammonemia Syndrome (HI/HA syndrome) is an autosomal dominant disease caused by activating mutations in GLUD1, the gene responsible for encoding the mitochondrial enzyme glutamate dehydrogenase (GDH). This syndrome represents the second most common genetic form of congenital hyperinsulinism in infancy. Children with HI/HA syndrome typically experience hypoglycemic symptoms triggered by fasting or high-protein meals and persistently elevated ammonia levels. We report a case of HI/HA syndrome in a 7-month-old female who presented with cyanosis and hyperammonemia, along with an initial normal glucose level at the time of presentation. About one week after the child’s admission to the hospital, we discovered that hypoglycemia was the cause of her irritability. The hypoglycemic episode was found to occur coincidentally with hyperammonemia. The combination of clinical findings, biochemical markers, and genetic sequencing identifying a GLUD1 pathogenic variant facilitated the correct diagnosis of HI/HA syndrome. As demonstrated by this case, the diagnosis of HI/HA syndrome requires a thorough clinical evaluation, comprehensive biochemical analysis, and genetic testing. With the correct diagnosis, a patient with HI/HA syndrome can receive ongoing monitoring and care with the goal of preventing adverse neurologic sequelae.
2 Kenny-Caffey Syndrome type 2: Insight from two Vietnamese cases / Can Thi Bich Ngoc, Nguyen Ngoc Khanh // .- 2025 .- Tập 190 - Số 5E16 .- P. 264-270 .- 610
We report two unrelated 8-year-old Vietnamese girls diagnosed with Kenny-Caffey Syndrome type 2 (KCS2), each harboring the same heterozygous pathogenic variant in the FAM111A gene (c.1706G>A, p.Arg569His). Case 1 presented initially at age 4 with poor growth and persistent anterior fontanelle. At age 8, she exhibited severe short stature (-4.5 SDS), macrocephaly, small hands, and craniofacial dysmorphisms. Additional findings included persistent fontanelle, hyperopia with amblyopia, cortical thickening of long bones, and asymptomatic hypocalcemia with normal parathyroid hormone (PTH) levels. Brain MRI showed a thin pituitary gland. Case 2 presented with short stature (-4.96 SDS), a history of hypocalcemic seizures, and congenital astigmatism. She had normal facial appearance but showed cortical bone thinning, absent pituitary lobes, and hypocalcemia with inappropriately low PTH levels. Despite calcium supplementation, normocalcemia was achieved only after calcitriol therapy. Growth hormone was later initiated with favorable growth response. Both cases underscore the variable expressivity of KCS2 and highlight the diagnostic value of genetic testing in children with unexplained short stature, skeletal anomalies, and calcium disturbances. The study contributed additional data on NKX6-2 variants in Vietnamese patients.
3 Identification of variant of insulin receptor gene in resistant diabetes / Nguyen Ngoc Khanh, Can Thi Bich Ngoc // .- 2025 .- Tập 190 - Số 5E16 .- Tr. 26-32 .- 610
Insulin resistance is defined as a reduced biological response of target tissues to normal insulin levels and is a major mechanism leading to type 2 diabetes, particularly in obese individuals. Beyond obesity, other causes include medications (e.g., glucocorticoids, antiretrovirals, oral contraceptives), stress, pregnancy, dyslipidemia, insulin receptor autoantibodies (Type B insulin resistance), and genetic defects. Among genetic causes, mutations in the insulin receptor (INSR) gene can lead to severe insulin resistance known as Type A insulin resistance. This rare inherited disorder belongs to a spectrum of monogenic insulin resistance syndromes, including Donohue and Rabson-Mendenhall syndromes.