HYPOPHOSPHATASIA: A FAMILIAL CASE OF A RARE DISEASE.
Ключевые слова:
rickets-like lower limb deformities, muscle weaknessАннотация
Hypophosphatasia (HPP) is a rare hereditary disease characterized by a very diverse clinical manifestations, which hinders a timely diagnosis. The article presents a description of a family HPP — two brothers of the same family had the disease manifested in childhood. The first clinical symptoms began to appear in the first year of life. Clinical manifestations were typical for HPP: rickets-like lower limb deformities, muscle weakness, poor exercise tolerance, early tooth loss. The symptoms of the disease were observed from various organs and systems, which significantly affected the physical health and patient’s quality of life.
Библиографические ссылки
Whyte M.P. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol.
2 Mornet E. Genetics of hypophosphatasia. Archives de Pediatrie.
Baranov A.A., Namazova-Baranova L.S., Savost'yanov K.V. Clinical recommendations for the diagnosis and treatment of hypophosphatasia in children. Pediatric pharmacology.
Gurkina E.Yu., Voinova V.Yu., Kuzenkova L.M. etc. Hypophosphatasia. Review of clinical cases published in the Russian Federation. breast cancer.
Orimo H. Pathophysiology of hypophosphatasia and the potential role of asfotase alfa. Ther Clean Risk Management.
Taketani T. Neurological Symptoms of Hypophosphatasia. Subcell Biochem.
Zukhridinovna Z. D. MODERN ASPECTS OF NEUROPROTECTIVE TREATMENT IN HYPERTENSIVE RETINOPATHY //Web of Scientist: International Scientific Research Journal. – 2022. – Т. 3. – №. 02. – С. 949-952. https://wos.academiascience.org/index.php/wos/article/view/949/880 https://wos.academiascience.org/index.php/wos/article/view/949
8.Jalalova D. Z. (2022). Interrelation of Cardiological and Ophthalmological Parameters in Patients with Arterial Hypertension in Combination with Coronary Heart Disease. Eurasian Scientific Herald, 8, 135–141. Retrieved from https://www.geniusjournals.org/index.php/esh/article/view/1437 https://www.geniusjournals.org/index.php/esh/article/view/1437
9.Zukhriddinovna, Z. D. (2022). Development of Classification Criteria for Neuroretinal Ischemia in Arterial Hypertension. Central Asian Journal of Medical and Natural Science, 3(3), 59-65. https://doi.org/10.17605/OSF.IO/K76ZT
10.Жалалова, Д. З. Метод комбинированного лечения диабетической ретинопатии // Врач-аспирант, (2009). 37(10), 864-868.
11.Zukhriddinovna, Z. D. (2022). Development central asian journal of natural sciences, https://doi.org/10.17605/OSF.IO/K76ZT
Zuxridinovna, J. D. (2022). central asian journal of natural sciences, retrieved from https://cajmns.centralasianstudies.org/index.php/CAJMNS/article/view/737
Z. , Z. D. (2022).. central asian journal of natural sciences, https://doi.org/10.17605/OSF.IO/SYA5K
Pirmanova, G. (2022). Extracurricular study of world monuments culture - historical and cultural architectural english heritage . Scientific Research Results in Pandemic Conditions (COVID-19), 1(05), 166–168. Retrieved from https://inlibrary.uz/index.php/scientific-research-covid-19/article/view/8536
Najmiddinovna, K. D. (2022). Improvement of mental and inventive action of young people within the consider of verifiable and social landmarks of britain. confrencea, https://confrencea.org/index.php/confrenceas/article/view/176
