ACADEMIC AND RESEARCH PEER-REVIEWED MEDICAL JOURNALISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
Ru
En

Hypophosphatasia: How to Suspect the Disease in Paediatric Patients? Clinical Observation

DOI:10.31550/1727-2378-2020-19-3-35-39
Bibliography link: Khramova E.B., Levitina E.V., Romanenko E.S., Suprunets S.N., Gurkina E.Yu., Kuchkina A.Yu. Hypophosphatasia: How to Suspect the Disease in Paediatric Patients? Clinical Observation. Doctor.Ru. 2020; 19(3): 35–39. (in Russian) DOI: 10.31550/1727-2378-2020-19-3-35-39
19 May 10:48

Objective of the Paper: to describe peculiarities of differential diagnosis of hypophosphatasia and rickets-like diseases as exemplified by a number of case reports.

Key Points. Hypophosphatasia is caused by reduction in alkaline phosphatase (AP) activity, leading to various damages to all organs and tissues with multiple manifestations. Non-specific clinical presentation of this rare inherited metabolic disorder and poor awareness of doctors make hypophosphatasia diagnosis quite difficult. The only nosotropic therapy for hypophosphatasia is life-long enzyme replacement therapy with asfotase alfa. The article describes case reports of perinatal (most severe) and paediatric disease variants.

Conclusion. Hypophosphatasia should be tested in all patients with signs of bone hypomineralisation in combination with multisystem disorders and/or paroxysmal syndrome, dentofacial pathologies and reduced AP activity. It should be noted that AP activity criteria are age-dependant; therefore, an attending physician should make sure that lab results correlate with the normal AP value for the corresponding age.

Contribution: Khramova, E.B. — article composition; review of critically important material; manuscript preparation; approval of the manuscript for publication; Levitina, E.V., Romanenko, E.S. — patient examination and management; manuscript preparation; Suprunets, S.N., Gurkina, E.Yu. — patient examination and management; Kuchkina, A.Yu. — thematic publications reviewing, manuscript preparation.

Conflict of interest: The authors declare that they do not have any conflict of interests.

E.B. Khramova (Corresponding author) — Tyumen State Medical University of the Ministry of Health of the Russian Federation; 54 Odesskaya Str., Tyumen, Russian Federation 625023. ORCID: http://orcid.org/0000-0001-8968-3925. E-mail: doctor.khramova@gmail.com

E.V. Levitina — Tyumen State Medical University of the Ministry of Health of the Russian Federation; 54 Odesskaya Str., Tyumen, Russian Federation 625023. ORCID: http://orcid.org/0000-0003-2553-7552. E-mail: 401261@mail.ru

E.S. Romanenko — South Ural State Medical University of the Ministry of Health of the Russian Federation; 64 Vorovskiy Str., Chelyabinsk, Russian Federation 454092. ORCID: http://orcid.org/0000-0002-1256-3578. E-mail: rkv201068@yandex.ru

S.N. Suprunets — Tyumen State Medical University of the Ministry of Health of the Russian Federation; 54 Odesskaya Str., Tyumen, Russian Federation 625023. ORCID: http://orcid.org/0000-0001-8597-1857. E-mail: suprunets.s@gmail.com

E.Yu. Gurkina — Institute of Perinatology and Paediatrics at Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation; 2 Akkuratov Str., St. Petersburg, Russian Federation 197341. ORCID: http://orcid.org/0000-0002-5797-8611. E-mail: gurkina_eyu@almazovcentre.ru

A.Yu. Kuchkina — Tyumen State Medical University of the Ministry of Health of the Russian Federation; 54 Odesskaya Str., Tyumen, Russian Federation 625023. ORCID: http://orcid.org/0000-0002-1973-2434. E-mail: kuchkina94@gmail.com

Доктор.ру

Fig. 1. X-ray images of skeleton and skull bones (patient Ch.) Courtesy of authors

r6_1.jpg

Fig. 2. Dedentition without root blunting in patient R. (2 years old). Courtesy of authors

r6_2.jpg

Table
Examination results of patients R. and A. directly related to diagnosis

t6_1.jpg

Received: 10.04.2020
Accepted: 20.04.2020

19 May 10:48
LITERATURE
  1. Martos-Moreno G.Á., Calzada J., Couce M.L., Argente J. Hypophos­phatasia: clinical manifestations, diagnostic recommendations and therapeutic options. An. Pediatr. (Barc.). 2018; 88(6): 356.e1–11. DOI: 10.1016/j.anpedi.2017.06.004
  2. Whyte M.P., Leung E., Wilcox W.R., Liese J., Argente J., Martos-Moreno G.Á. et al. Natural history of perinatal and infantile hypophosphatasia: a retrospective study. J. Pediatr. 2019; 209: 116–24.e4. DOI: 10.1016/j.jpeds.2019.01.049
  3. Millan J.L., Whyte M.P. Alkaline phosphatase and hypophosphatasia. Calcif. Tissue Int. 2016; 98(4): 398–416. DOI: 10.1007/ s00223-015-0079-1
  4. Mokina A.V., Khramova E.B., Chufarovskaya A.A. Difficult diagnosis: hypopho­sphatasia. Ural University Medicine. 2016; 2(1): 88–92. (in Russian)
  5. Federal clinical guidelines (protocol) for the provision of medical care to patients with hypophosphatasia. M.; 2015. 47 р. (in Russian)
  6. Whyte M.P. Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat. Rev. Endocrinol. 2016; 12(4): 233–46. DOI: 10.1038/nrendo.2016.14.
  7. Baranov A.A., Namazova-Baranova L.S., Savostyanov K.V., Margieva T.V., Vishneva E.A., Yahyae­va G.T. Clinical recommendations to the diagnosis and treatment of hypophosphatasia in children. Pediatric Pharmacology. 2016; 13(6): 539–43. (in Russian). DOI: 10.15690/pf.v13i6.1665
Новости мировой медицины! Свежие статьи из журнала! Будьте в курсе!

Похожие статьи

Similar article
19 April 00:00, Interview
Interview
Doctor.Ru Pediatrics. Vol. 20, No. 3 (2021)
19 April 00:00, Paediatrics
A.V. Aksenov, E.A. Ivanovskaya
Successful Use of Tocilizumab in a Child with Systemic Juvenile Idiopathic Arthritis
Doctor.Ru Pediatrics. Vol. 20, No. 3 (2021)

News