IDIOPATHIC INFANTILE HYPERCALCEMIA . DESCRIPTION OF CLINICAL CASES AND REVIEW.

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Abstract


Vitamin D plays a central role in calcium homeostasis. Impaired degradation  of 1,25-dihydroxyvitamin D due to loss-of-function mutations in CYP24A1 leads to significant hypercalcemia, hypercalciuria,  suppressed level of parathyroid hormone (PTH),  nephrocalcinosis and nephrolithiasis.  This condition has been called Idiopathic infantile hypercalcemia.

Treatment includes low calcium diet, rehydration, furosemid,  avoidance of vitamin D supplements  and sun protection.   In severe  cases   glucocorticoids, ketoconazole,  bisphosphonates  and  hemodiafiltration may be used.

Early diagnosis of the disease allows to develop an individual plan for managing these patients to prevent the formation of kidney disease, to conduct a genetic family counseling.

Here, we describe the cohort of  patients (3  children, 2 adults)  with significant hypercalcemia due to  homo- and compound heterozygous mutations in CYP24A1, describe  the main clinical and laboratory characteristics, diagnosis, principles and foundations of the management of patients with this pathology.


Yulia V. Tikhonovich

Author for correspondence.
yuliatihonovich@mail.ru
ORCID iD: 0000-0001-7747-6873
SPIN-code: 6492-6790
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

MD, PhD

Anna A. Kolodkina

anna_kolodkina@mail.ru
ORCID iD: 0000-0001-7736-5372
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

MD, PhD

Kristina S. Kulikova

kristinakulikova87@gmail.com
ORCID iD: 0000-0002-0434-9088
SPIN-code: 4931-5238
G.N. Speransky Municipal Children’s Clinical Hospital no. 9
Russian Federation,  29 Smitovskiy proezd, Moscow, 123317

MD

Yulia Yu. Golubkina

dr.golubkina@gmail.com
ORCID iD: 0000-0002-0270-4429
SPIN-code: 6110-0865
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

научный сотрудник

Natalia Yu. Kalinchenko

kalinnat@rambler.ru
ORCID iD: 0000-0002-2000-7694
SPIN-code: 6727-9653
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

MD, PhD

Larisa V. Savelieva

slv63@mail.ru
ORCID iD: 0000-0002-2808-4846
SPIN-code: 1452-8793
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

MD, PhD

Mikhail M. Kostik

kost-mikhail@yandex.ru
ORCID iD: 0000-0002-1180-8086
SPIN-code: 7257-0795
St. Petersburg State Pediatric Medical University
Russian Federation, 2 Litovskaya Street, St.Petersburg, 194100  

MD, PhD, Assistance Professor

Ludmila Y. Rozhinskaya

rozhinskaya@rambler.ru
ORCID iD: 0000-0001-7041-0732
SPIN-code: 5691-7775
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

MD, PhD, Professor

Anatoly N. Tiulpakov

ant@endocrincentr.ru
ORCID iD: 0000-0001-8500-4841
SPIN-code: 8396-1798
Endocrinology Research Centre
Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow

MD, PhD

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Copyright (c) Tikhonovich Y.V., Kolodkina A.A., Kulikova K.S., Golubkina Y.Y., Kalinchenko N.Y., Savelieva L.V., Kostik M.M., Rozhinskaya L.Y., Tiulpakov A.N.

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