Diabetische Ketoazidose bei einer Patientin mit HNF4A-MODY

Zusammenfassung

Eine 27-jährige Patientin mit HNF4A-Maturity Onset Diabetes of the Young (MODY) wurde zur Behandlung einer schweren diabetischen Ketoazidose (DKA) und eines fortgeschrittenen diabetischen Fußsyndroms infolge einer fehlenden Therapieadhärenz stationär aufgenommen. Die DKA konnte im Rahmen eines kurzzeitigen Aufenthaltes auf der Intensivstation beherrscht werden und der Glukosestoffwechsel nach Initiierung einer intensivierten konventionellen Insulintherapie und einer umfassenden und individuellen Diabetesschulung langfristig optimiert werden. Dank intensiver Bemühungen des interdisziplinären Behandlungsteams konnte eine Fußamputation vermieden werden und die Wunden zur Abheilung gebracht werden. Angesichts unserer Fallbeschreibung und früherer Fallbeschreibungen von Patienten mit anderen MODY-Formen, bei denen es bei Erstdiagnose oder im Krankheitsverlauf zu einer DKA kam, sollte an dem in den aktuellen Kriterien zur Diagnose eines MODY geforderten Fehlen einer DKA nicht länger festgehalten und diese Kriterien entsprechend modifiziert werden. Zudem sollten die betroffenen Patienten angesichts der unverändert hohen Mortalität einer DKA umfassend geschult werden.

Abstract

A 27-year-old female patient with HNF4A-Maturity Onset Diabetes of the Young (MODY) was admitted to hospital for treatment of severe diabetic ketoacidosis (DKA) and advanced diabetic foot syndrome due to a lack of adherence to therapy. The DKA was controlled during a short stay in the intensive care unit and the glucose metabolism was optimised in the long term after initiating an intensified conventional insulin therapy and a comprehensive and individual diabetes training. Thanks to intensive efforts of the interdisciplinary treatment team, foot amputation was avoided and the wounds were brought to healing. In view of our case report and earlier case reports of patients with other forms of MODY who developed DKA at initial diagnosis or in the course of the disease, the absence of DKA required in the current criteria for the diagnosis of MODY should no longer be adhered to and these criteria should be modified accordingly. In addition, the affected patients should be comprehensively educated in view of the unchanged high mortality of DKA.

Schlüsselwörter

Maturity Onset Diabetes of the Young - Diabetische Ketoazidose - Diagnostische Kriterien

Keywords

Maturity Onset Diabetes of the Young - Diabetic ketoacidosis - Diagnostic criteria

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