Wrodzony hiperinsulinizm — próba optymalizacji diagnostyki i leczenia u polskich pacjentów

Abstract

Introduction: Congenital hyperinsulinism of Infancy (CHI) comprises heterogenic defects of insulin secretion with diverse molecular aetiology, histological features, severity of symptoms, and response to pharmacotherapy. The study aimed to establish the first clinical characteristics of Polish patients with CHI and to propose a novel clinical algorithm allowing the prioritisation of genetic and radiology studies, based on patient's characteristics and response to pharmacotherapy. Material and methods: Thirty-one patients with CHI were recruited from five reference centres in Poland. Clinical and biochemical parameters were statistically evaluated and compared to those of a control group (n = 30). Results: CHI predisposes to increased birth weight (p = 0.004), lower Apgar score (p = 0.004), perinatal complications (74%), and neurological implications (48%). Diagnostic process and therapy were inconsistent. A trial of pharmacotherapy was applied in 21 patients (68%), and diagnostic imaging with 18F-L-DOPA PET was performed in only 3. Eighteen patients (58%) were surgically treated, including 8 infants (44%) aged less than 2 months. Depending on the type of resection, further hypoglycaemia was observed postoperatively in 50% (n = 9) and hyperglycaemia in 39% (n = 7) of cases. Based on foregoing results, a clinical algorithm was proposed.

Hypoglycaemia in endocrine, diabetic, and internal diseases [Hipoglikemia w schorzeniach endokrynologicznych, diabetologicznych i internistycznych]

“…Treatment starts with the use of diazoxide. In the absence of a positive reaction to the drug, a partial pancreatectomy is performed, and in the case of a diffuse CHI, octreotide and intensive nutritional treatment are included in the treatment, and only in the absence of improvement is complete pancreatectomy is performed [41].…”

“…Leczenie rozpoczyna się od stosowania diazoksydu. Przy braku pozytywnej reakcji na lek wykonuje się częściową pankreatektomię, a w przypadku stwierdzenia rozlanej formy wrodzonego hiperinsulinizmu do terapii włącza się oktreotyd, intensywne leczenie żywieniowe, a dopiero przy braku poprawy wykonuje się pankreatektomię całkowitą [41].…”