From biliary dysfunction to hypofastatasia
https://doi.org/10.31146/1682-8658-ecg-245-1-164-167
Abstract
Biliary tract dysfunction is one of the most common functional disorders of the gastrointestinal tract in childhood. In clinical practice, a combination of problems can often occur - functional pathology of the gastrointestinal tract with other pathologies, sometimes with rare (orphan) diseases, which can be suspected during follow-up examination based on the results of laboratory and instrumental studies and clinical and anamnestic data. The article presents a clinical case of dizygotic twins who underwent a diagnostic search from biliary dysfunction to hypophosphatasia. Hypophosphatasia (GFF) is an orphan disease characterized by a decrease in the level of alkaline phosphatase and systemic manifestations, mainly from the musculoskeletal system, neurological symptoms, and respiratory damage. The lack of specificity and wide variability of clinical symptoms often complicates the diagnostic process, which leads to life-threatening conditions and disability of the patient.
About the Authors
Yu. Yu. Terekhova
Tula Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
V. G. Sapozhnikov
Tula Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
D. V. Kharitonov
Tula Regional Children’s Clinical Hospital
Russian Federation
Russian Federation
References
1. Baranov A.A., Namazova-Baranova L.S., Savostianov К.V. et al. Clinical recommendation to the diagnostics and treatment of hypophosphatasia in children. Pediatric pharmacology. 2016;13(6):539-543. (in Russ.) DOI: 10.15690/pf.v13i6.1665. @@ Баранов А.А., Намазова-Баранова Л.С., Савостьянов К.В. и др. Клинические рекомендации по диагностике и лечению гипофосфатазии у детей. Педиатрическая фармакология. 2016;13(6):539-543. DOI: 10.15690/pf.v13i6.1665.
2. Gabrusskaya T.V., Panutina Y.V., Revnova M.O., Kostik M.M. Infantile Hypophosphatasia: Clinical Case. Current Pediatrics. 2019;18(6):452-457 (in Russ.). DOI: 10.15690/vsp.v18i6.2065.@@ Габрусская Т.В., Панютина Я.В., Ревнова М.О., Костик М.М. Инфантильная форма гипофосфатазии: клинический случай. Вопросы современной педиатрии. 2019;18(6):452-457. DOI: 10.15690/vsp.v18i6.2065.
3. Surtees R., Mills P., Clayton P. Inborn errors affecting vitamin B6 metabolism. Future Neurol. 2006;1(5):615-620. doi: 10.2217/14796708.1.5.615.
4. Bianchi ML. Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 2015;26(12):2743-2757. doi: 10.1007/s00198-015-3272-1.
5. Khramova E.B., Levitina E.V., Romanenko E.S. et al. Hypophosphatasia: How to Suspect the Disease in Paediatric Patients? Clinical Observation. Doctor.Ru. 2020;19:35-39. (in Russ.) DOI: 10.31550/1727-2378-2020-19-3-35-39. @@ Храмова Е.Б., Левитина Е.В., Романенко Е.С. и др. Гипофосфатазия: как заподозрить заболевание у ребенка? Клинические наблюдения. Доктор.Ру. 2020;19(3):35-39. DOI: 10.31550/1727-2378-2020-19-3-35-39.
6. Baranov A. A., Namazova-Baranova L. S., Kutsev S.I., Margiyeva T.V., Vashakmadze N.D., Vishneva Ye.A., Selimzyanova L.R., Voskoboyeva Ye.Yu., Zakharova Ye.Yu., Kuzenkova L.M., Lobzhanidze T.V., Mikhaylova L.K., Polyakova O.A., Mikhaylova S.V., Moiseyev S.V., Podkletnova T.V., Semechkina A.N., Udalova O.V., Vitebskaya A.V., Kisel’nikova L.P., Kostik M.M. Modern approaches to the management of patients with hypophosphatasia. PF. 2020; 6.@@ Баранов А.А., Намазова-Баранова Л. С., Куцев С.И., Маргиева Т.В., Вашакмадзе Н.Д., Вишнева Е.А., Селимзянова Л.Р., Воскобоева Е.Ю., Захарова Е.Ю., Кузенкова Л.М., Лобжанидзе Т.В., Михайлова Л.К., Полякова О.А., Михайлова С.В., Моисеев С.В., Подклетнова Т.В., Семечкина А.Н., Удалова О.В., Витебская А.В., Кисельникова Л.П., Костик М.М. Современные подходы к ведению пациентов с гипофосфатазией. ПФ. 2020; 6.
7. Whyte M. P., Zhang F., Wenkert D., McAlister W.H., Mack K.E., Benigno M.C., Coburn S.P., Wagy S., Griffin D.M., Ericson K.L., et al. Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients. Bone. 2015; 75:229-239.
8. Vitsebskaya A.V., Chernova E.V. The childhood form of hypophosphatasia in real clinical practice. Doctor.Ru. 2020; 19(10): 57-60. (in Russ.) DOI: 10.31550/1727-2378-2020-19-10-57-60. @@ Витебская А.В., Чернова Е.В. Детская форма гипофосфатазии в реальной клинической практике. Доктор.Ру. 2020; 19(10): 57-60. DOI: 10.31550/1727-2378-2020-19-10-57-60.
9. Sosnina I.B., Sukcheev M.B., Ivashikina T.M. et al. Retrospective diagnostics of hypophosphatasia in children.Rus. Med. Journal. Medical Review. 2016; 26: 1778-81. (in Russ.).@@ Соснина И.Б., Сукчев М.Б., Ивашикина Т.М. и др. Опыт ретроспективной диагностики гипофосфатазии у детей. Рус. мед. журн. Медицинское обозрение. 2016; 26: 1778-81.
10. Whyte M.P. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233-246. DOI: 10.1038/nrendo.2016.14.
11. Kulikova K.S., Kalinchenko N. Yu., Sibileva E.N. et al. Hypophosphatasia: the clinical description of 3 cases of the disease with the molecular-genetic verification of the diagnosis. Problems of Endocrinology. 2015; 61(3): 37-42. (in Russ.) DOI: 10.14341/probl201561337-42. @@ Куликова К.С., Калинченко Н.Ю., Сибилева Е.Н. и др. Гипофосфатазия: клиническое описание трех случаев заболевания с молекулярно-генетической верификацией диагноза. Проблемы эндокринологии. 2015; 61(3): 37-42. DOI: 10.14341/probl201561337-42.
Review
For citations:
Terekhova Yu.Yu., Sapozhnikov V.G., Kharitonov D.V. From biliary dysfunction to hypofastatasia. Experimental and Clinical Gastroenterology. 2026;(1):164-167. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-245-1-164-167
Views:
48
JATS XML
Email this article 
