Clinical and genetic heterogeneity of congenital hyperinsulinism
نویسندگان
چکیده
منابع مشابه
The genetic basis of congenital hyperinsulinism.
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic beta-cells. It is a major cause of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and infancy period. Genetically CHI is a heterogeneous condition with mutations in seven different genes described. The genetic basis of CHI involves defects in key genes which r...
متن کاملHeterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome
OBJECTIVE To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528). RESEARCH DESIGN AND METHODS Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers. RESULTS Genetic testing identified...
متن کاملClinical practice guidelines for congenital hyperinsulinism
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including ...
متن کامل[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملClinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism
OBJECTIVE Mutations in the KATP channel genes is the most common cause of congenital hyperinsulinism (CHI) of infancy. Our aim was to report the clinical and genetic characteristics, treatment modalities, and long-term prognosis of patients with CHI. METHODS Clinical and biochemical findings, operation procedures, and results of genetic analysis were retrospectively evaluated in 22 CHI patien...
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ژورنال
عنوان ژورنال: Anales de Pediatría (English Edition)
سال: 2018
ISSN: 2341-2879
DOI: 10.1016/j.anpede.2017.06.009