Kongenitaler Hyperinsulinismus

ZUSAMMENFASSUNG

Bereits in den 1950er-Jahren wurde eine Familie mit leuzinsensitiver Hypoglykämie beschrieben, die erstmals eine genetische Ursache der „idiopathischen Hypoglykämie des Säuglings McQuarry“ vermuten ließ. Jedoch erst in den 1990er-Jahren konnten genetische Ursachen des damals unspezifisch als Nesidioblastose bezeichneten kongenitalen Hyperinsulinismus nachgewiesen werden. Diese Erkenntnisse zur Pathogenese führten bereits wenige Jahre später zur lebenslangen Heilung für etwa ein Drittel der zuvor intensivmedizinisch betreuten Säuglinge. Bei dieser Teilgruppe liegt ein umschriebener hochaktiver Fokus im Pankreas vor, der häufig laparoskopisch entfernt werden kann. Auch für die medikamentöse Therapie gibt es den Ausblick auf eine Präzisionstherapie mit löslichem Glukagon, spezifischem Insulinrezeptorantikörper und einem spezifischen GLP-1-Antagonisten.

ABSTRACT

As early as the 1950 s, a family with leucine-sensitive hypoglycaemia was described, which for the first time suggested a genetic cause of “idiopathic hypoglycaemia of the infant McQuarry”. However, it was not until the 1990 s that genetic causes of congenital hyperinsulinism, then unspecifically referred to as nesidioblastosis, were identified. Just a few years later, these findings on the pathogenesis led to a lifelong cure for around a third of the infants previously receiving intensive medical care. In this subgroup, there is a circumscribed highly active focus in the pancreas, which can often be removed laparoscopically. There is also the prospect of precision drug therapy with soluble glucagon, specific insulin receptor antibodies and a specific GLP-1 antagonist.

Schlüsselwörter

Kongenitaler Hyperinsulinismus - neonatale Hypoglykämie - fokaler KATP Hyperinsulinismus - 18F-DOPA-PET-Scan - Diazoxid - lösliches Glukagon

Keywords

Congenital hyperinsulinism - neonatal hypoglycemia - focal form of KATP HI - 18F-DOPA-PET-scan - diazoxide - soluble glucagon

Publication History

Article published online:
02 December 2024

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