The atypical form of Gitelman syndrome with cerebral calcifications
https://doi.org/10.21508/1027-4065-2018-63-1-90-95
Abstract
The clinical and genetic features of the rare, atypical form of the autosomalrecessive Gitelman syndrome with manifestation atschool age are presented. The disease manifestsin child with the hypomagnesemia, hypermagnesium, hypomagnesic limbs convulsions, metabolic alkalosis, hypokalemia, hypocalcemia, hypoparathyroidism associated with the cerebral bilateral calcifications in the frontal lobes, basal ganglia, cerebellum, and decreased intelligence. The diagnosis is confirmed by recognition of the homozygous mutation in gene SLC12А3.
About the Authors
J. G. Leviashvili
Saint-Petersburg State Pediatric Medical University of the Ministry of Health of Russia, Saint-Petersburg
Russian Federation
Russian Federation
N. D. Savenkova
Saint-Petersburg State Pediatric Medical University of the Ministry of Health of Russia, Saint-Petersburg
Russian Federation
Russian Federation
V. I. Guzeva
Saint-Petersburg State Pediatric Medical University of the Ministry of Health of Russia, Saint-Petersburg
Russian Federation
Russian Federation
I. V. Anichkova
Saint-Petersburg State Pediatric Medical University of the Ministry of Health of Russia, Saint-Petersburg
Russian Federation
Russian Federation
E. N. Suspitsin
Saint-Petersburg State Pediatric Medical University of the Ministry of Health of Russia, Saint-Petersburg
Russian Federation
Russian Federation
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Review
For citations:
Leviashvili J.G., Savenkova N.D., Guzeva V.I., Anichkova I.V., Suspitsin E.N. The atypical form of Gitelman syndrome with cerebral calcifications. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(1):90-95. (In Russ.) https://doi.org/10.21508/1027-4065-2018-63-1-90-95
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