Wolfram Syndrome as a degenerative hereditary disease with an autosomal recessive type of inheritance. Development of diabetes mellitus in childhood without pronounced microangiopathy in combination with subatrophy of the optic nerve disk of both eyes.
Tver State Medical University State Clinical Hospital, department of endocrinoljgy Wolfram syndrome in clinical practice MD, Professor Belyakova N.A. MD Silkina M.I. MD, Associate professor Lareva A.V. MD Konovalova O.V. MD Rudenko E.V. MD, Associate professor Lyasnikova M.B. Abstract wolfram degenerative hereditary nerve This article presents a clinical case of rare genetical disease -Wolfram syndrome, DIDMOAD-Syndrome (stands for Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness) , a hard degenerative hereditary disease with an autosomal recessive mode of inheritance and a progressive course which includes the following 4 components: diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy and sensorineural hypocusis. Development of diabetes in childhood without the expressed microangiopathy and nearly simultaneous decline of subatrophy optic nerves of both eyes, the emergence of bilateral sensorineural hearing loss, followed by the addition of central diabetes insipidus allowed to assume the presence of DIDMOAD-syndrome, complete form - Wolfram syndrome in actual patient. Keywords: DIDMOAD -syndrome, Wolfram syndrome, diabetes mellitus, diabetes insipidus, optic nerves atrophy, hearing loss. Синдром Вольфрама, акроним Diabetes Insipidus, Diabetes Mellitus, OpticAtrophy, Deafness) - тяжелое дегенеративное наследственное заболевание с аутосомно-рецессивным типом наследования и прогрессирующим течением, которое включает в себя 4 составляющих: сахарный диабет, несахарный диабет, атрофию зрительных нервов и сенсоневральную тугоухость.
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