Багатогранний діабет: клінічний випадок

DIDMOAD syndrome (Wolfram syndrome type 1 is an orphan multisystem mitochondrial dysfunction, the name of which is an acronym for the combination of the following nosologies: Diabetes Insipidus (DI), Diabetes Mellitus (DM), Optic Atrophy (OA), Deafness (D), which is associated with a biallelic mutation in the wolframin gene (Wolframin ER transmembrane glycoprotein 1 — WFS1) and is inherited in an autosomal recessive manner. Objective — to study in detail and present a specific clinical case of DIDMOAD syndrome, including its manifestations, diagnosis, treatment and prognosis, in order to expand medical knowledge, improve clinical practice and education. Materials and methods. A systematic analysis of 29 modern literature sources on the topic was conducted, with an emphasis on clinical manifestations, genetics and differential diagnosis. A patient with a clinical case of classic DIDMOAD syndrome (Wolfram syndrome type 1) was under observation, which was verified by whole exome sequencing in a certified laboratory of the University of Exeter (UK, Exeter). Results and discussion. About 200 cases of DIDMOAD syndrome are described in the scientific literature in the world, and in Ukraine, including this one, only two. Unlike the results of other researchers, in our patient, hypoinsulinemic hyperglycemia was combined with a congenital anomaly of the urinary system (duplication of the right kidney) without early manifestation of visual and hearing impairment, which led to the differential diagnosis of his pathological condition with other types of non­autoimmune diabetes mellitus accompanied by impairment of the urinary system. Conclusions. DIDMOAD syndrome is an extremely rare disease, in which genetic testing helps to select precision treatment. The clinical case described by us will serve as a guide for clinicians to increase awareness of the detection of this orphan disease and intensify its management.