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Syndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinic

https://doi.org/10.14341/probl13125

Abstract

Hypocalciuric hypercalcemia syndrome (familial hypocalciuric hypercalcemia, FHH) is an inherited condition based on dysfunction of the calcium receptor or its associated partner proteins. Recent evidence suggests that the prevalence of this condition may be comparable to that of primary hyperparathyroidism. Clinical manifestations of FHH are usually absent; however the classic symptoms of hypercalcemia may be present in some cases. Timely differential diagnosis of FHH avoids unnecessary and expensive instrumental examination, as well as ineffective treatment. The clinical cases presented in this publication demonstrate the unjustified difficulties in this issue and the necessity to raise the awareness of physicians about the familial hypocalciuric hypercalcemia.

About the Author

M. A. Sviridonova
LLC “Ogni Olimpa”
Russian Federation

Marina A. Sviridonova - MD, PhDю

125124, 15/4 1th street Yamskogo Polya, Moscow.

SPIN-код: 3717-2510


Competing Interests:

None



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Supplementary files

1. Figure 1. Calcium homeostasis in the body.
Subject
Type Исследовательские инструменты
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2. Figure 2. Functioning of the calcium-sensing receptor.
Subject
Type Исследовательские инструменты
View (149KB)    
Indexing metadata ▾

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For citations:


Sviridonova M.A. Syndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinic. Problems of Endocrinology. 2022;68(5):24-31. (In Russ.) https://doi.org/10.14341/probl13125

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