Врожденный гиперинсулинизм у новорожденных и детей раннего возраста: состояние проблемы и результаты хирургического лечения

Врожденный гиперинсулинизм вызывает необратимое повреждение коры головного мозга с последующей инвалидизацией детей. В статье представлены особенности этиопатогенеза, клиники заболевания. Подробно разобраны гистологические варианты поражения поджелудочной железы. Сформулированы принципы правильной постановки диагноза. Представлен новый в России метод дооперационного определения гистологической формы заболевания, который проводится в Национальном медицинском исследовательском центре имени В.А. Алмазова (НМИЦ им. В.А. Алмазова) с 2017 г., – ПЭТ/КТ (позитронноэмиссионная и компьютерная томография) с 18F-ДОФА, объяснены биохимические основы его клинического применения и методика обследования. Описаны принципы подбора медикаментозной терапии с возможными осложнениями, необходимостью адекватной оценки ее эффективности. При невозможности достигнуть стойкой целевой эугликемии без необходимости внутривенной инфузии глюкозы показана оперативная коррекция заболевания. В схематических рисунках и интраоперационных фотографиях описаны подходы к хирургическому лечению, наглядно разобраны этапы операций, возможные осложнения. Представлены результаты оперативных вмешательств в НМИЦ им. В.А. Алмазова за январь 2017 – февраль 2021 г., где было оперировано 39 детей с врожденным гиперинсулинизмом. По данным ПЭТ/КТ с 18F-ДОФА диагностированы 15 диффузных и 24 фокальные формы. После операции у 12 (31%) пациентов подтверждено диффузное поражение железы, у 23 (59%) – фокальный характер поражения, у 4 (10%) – интраоперационно диагностирована атипичная форма. Из 39 детей у 36 (92%) – полное купирование гиперинсулинизма, значительное улучшение психомоторного развития, из них 9 (23%) нуждаются в заместительной инсулинотерапии минимальными дозировками, – это 8 детей с диффузной формой заболевания и 1 ребенок – с атипичной. Интраи послеоперационных осложнений не отмечалось. Таким образом, частичная панкреатэктомия при фокальных, субтотальная при атипичных и почти тотальная при диффузных формах позволяют справиться с гипогликемиями вследствие врожденного гиперинсулинизма и предотвратить поражение центральной нервной системы новорожденных и младенцев.

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