Progeroid syndrome caused by a defect in the WRN gene. Description of a clinical case in a teenager


N.V. Kazachenko (1), V.V. Platonov (1–3), M.E. Turkunova (3), Yu.L. Skorodok (3), E.Yu. Smirnova (4)

1) St. Petersburg Children’s Municipal Multi-specialty Clinical Center of High Medical Technology n.a. K.A. Rauhfus, Saint Petersburg, Russia; 2) City Children’s Endocrinology Center, Saint Petersburg, Russia; 3) Department of Pediatric Diseases n.a. Prof. I.M. Vorontsov, Faculty of Postgraduate and Further Professional Education, Saint Petersburg State Pediatric Medical University, Saint Petersburg, Russia; 4) Endocrinology Center of the Kalininsky District, Saint Petersburg, Russia
Background. Progeroid syndromes are a group of rare hereditary diseases characterized by accelerated aging of the body. The most striking signs of premature aging are manifested in Werner syndrome, caused by a mutation in the WRN gene. The main clinical feature of the disease is the loss of subcutaneous fat in the distal extremities. Patients are characterized by disorders of lipid and carbohydrate metabolism with the development of type 2 diabetes mellitus (T2DM) and cardiovascular diseases, hypogonadism, osteoporosis, cataracts, and oncological pathology. Currently, only symptomatic therapy of the disease has been developed.
Description of the clinical case. The patient 16 years and 11 months old, from a closely related marriage. Stuntedness, gray hair, diffuse alopecia, pointed facial features, beak-shaped nose, loss of subcutaneous fat in the distal extremities were noted. Laboratory testing revealed hypercholesterolemia, hypertriglyceridemia, atherogenic dyslipidemia, high blood insulin, C-peptide levels, insulin resistance. Fatty hepatosis was confirmed. Treatment with fenofibrate led to the normalization of the child’s lipid profile. Normalization of blood insulin levels during therapy with metformin was not observed.
Conclusion. At the initial examination, it is possible to suspect hereditary lipodystrophy with further genetic diagnosis. Early diagnosis of the disease makes it possible to prevent acute conditions and diseases associated with the syndrome, and allows to use reproductive technologies before the formation of hypogonadism. Correction of childhood lipid metabolism disorders with fibrates and/or statins can be successful. The first-line drugs for the correction of T2DM are metformin and/or insulin. At suspicion on Werner syndrome, it is imperative to conduct medical genetic counseling and psychological support to family members.

About the Autors

Corresponding author: Ekaterina Yu. Smirnova, Endocrinologist, Endocrinology Center of the Kalininsky district, St. Petersburg, Russia;

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