Email this article 
Post a Comment Phosphate diabetes: a clinical case of family hypophosphatemic rickets
- Authors: Miftakhova A.M.1
-
Affiliations:
- E.A. Vagner Perm State Medical University
- Issue: Vol 40, No 1 (2023)
- Pages: 142-150
- Section: Clinical case
- URL: https://journals.rcsi.science/PMJ/article/view/144139
- DOI: https://doi.org/10.17816/pmj401142-150
- ID: 144139
Cite item
Full Text
Abstract
Objective. To describe the clinical picture of the course of hypophosphatemic rickets in two members of the same family. Phosphate diabetes is a rare hereditary pathology of mineral and bone metabolism.
Materials and methods. There is presented a clinical picture of the course of hypophosphatemic rickets in two members of the same family.
Results. According to the results obtained, there is a clear difference in the severity of the disease course depending on the sex. The child's mother had a course of the disease with a late onset and complications from the lower extremities, but the patient was able to bear and give birth to a child on her own. The boy had an early detection, early progression of complications of the skeletal system with visual impairment and neurological symptoms (headaches, intracranial hypertension).
Conclusions. The clinical example is relevant for practitioners. It is necessary to develop algorithms for monitoring the complications of phosphate diabetes and searching for pathogenetic therapy.
Full Text
##article.viewOnOriginalSite##About the authors
A. M. Miftakhova
E.A. Vagner Perm State Medical University
Author for correspondence.
Email: albinamiftahova91@mail.ru
Candidate of Medical Sciences, postgraduate student, Department of Pathological Physiology
Russian Federation, PermReferences
- Yasonov S.A. Syndromic craniosynostoses: main clinical manifestations and modern possibilities of rehabilitation. Pediatrics 2012; 5: 114–119 (in Russian).
- Kuznetsova S.Yu.., Novikov P.V., Proshlyakova T. Ju., Zaharova E.Ju. Hypophosphatemic rickets in children. Russian Vestnik of Perinatology and Pediatrics 2013; 4: 14–19 (in Russian).
- Tankevich Z.A., Sukalo A.A. Rakhik-like diseases in children. Pediatrics 2010; 3: 5–12 (in Russian).
- Kulikova K.S. Tyulpakov A.N. Hypophosphatemic rickets: pathogenesis, diagnosis and treatment. Obesity and metabolism 2018; 2: 48–56 (in Russian).
- Vasilyeva T.G. Features of calcium and phosphorus metabolism in wounded children. Vestnik of the Russian Academy of Sciences 2006; 2: 91–95 (in Russian).
- Adibaeva G.Zh. Hereditary Tubulopathies: Phosphate-Diabetes. Vestnik AGIUV 2013; 1: 12–13 (in Russian).
- Proshlyakova T.Yu. Korotkaya T.S., Kuznetsova S.Yu. Comparative characteristics of rickets-like diseases. Russian Vestnik of Perinatology and Pediatrics 2018; 3: 19–25 (in Russian).
Supplementary files
