The perinatal hypophosphatasia: A case report and review of the literature

Abstract

Hypophosphatasia – is a rare genetic disorder that reveals by bone and tooth mineralization defects and lack of tissue-nonspecific alkaline phosphatase function. The different forms of the disease, from perinatal lethal to adult benign were known. The most important biochemistry marker of HPP (hypophosphatasia) is low alkaline phosphatase activity in the blood serum. Detection of mutations in the ALPL gene allows us to confirm the diagnosis. Enzyme replacement therapy is used to treat hypophosphatasia by the recombinant human ALP. This clinical report presents a case of early diagnosis of perinatal hypophosphatasia confirmed by a molecular genetic test.

Keywords:case report; hypophosphatasia; alkaline phosphatase; ALPL gene; perinatal hypophosphatasia

Funding. The work was carried out within the framework of the state assignment No. 121092400060-5.

Conflict of interest. The authors declare no conflict of interest.

For citation: Maslennikov D.N., Pupysheva A.F., Lenyushkina A.A., Krylova N.A., Bolshakova A.S., Sadelov I.O., Goltsov A.Yu., Dokshukina A.A., Shubina Je., Degtyareva A.V., Trofimov D.Yu. The perinatal hypophosphatasia: A case report and review of the literature. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2022; 10 (4): 75–82. DOI: https://doi.org/10.33029/2308-2402-2022-10-4-75-82 (in Russian)

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CHIEF EDITOR
CHIEF EDITOR
Degtyarev Dmitriy Nikolaevich
Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425

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