Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report
Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate-regulating neutral endopeptidase PHEX, predomi...
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Union of pediatricians of Russia
2025-02-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/2576 |
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| author | Anna S. Nechaeva Emma S. Grigoryan Tatyana V. Turti Tatiana E. Privalova Nato D. Vashakmadze Nina A. Krasnoshchekova |
| author_facet | Anna S. Nechaeva Emma S. Grigoryan Tatyana V. Turti Tatiana E. Privalova Nato D. Vashakmadze Nina A. Krasnoshchekova |
| author_sort | Anna S. Nechaeva |
| collection | DOAJ |
| description | Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate-regulating neutral endopeptidase PHEX, predominantly expressed in osteoblasts, osteocytes and teeth. This is a rare genetic disease that has difficulties in early diagnosis, in which a multidisciplinary approach is important. Currently, a new targeted therapy has been developed, showing the first results. This article presents a case of familial X-linked hypophosphatemia.Case Report. Twin girls, premature babies, with low birth weight, having complications during the newborn period. There was low growth, late teething, delayed speech development, and varus deformity of the lower extremities in past medical history. A biochemical blood test showed an increase in the level of alkaline phosphatase, hypophosphatemia, and a decrease in the level of tubular phosphorus reabsorption. The characteristic signs of rickets were recorded on the X-rays. Phosphorous buffer preparations, the active form of vitamin D, were used in the treatment. The analysis of 166 genes responsible for bone pathology was carried out using high-performance parallel sequencing using the target panel “Hereditary diseases of the skeleton”, and a mutation in the PHEX gene was identified. At the age of 4 years and 8 months, a clinical diagnosis was established: X-linked dominant hypophosphatemic rickets. Heterozygous mutation c.1568+1G>A in the PHEX gene. Somatic stunting. Taking into account the O-shaped deformity of the legs, the girls underwent corrective osteotomy on the left tibia. At 6.5 years of age, haemiepiphysiodesis. At the age of 8, pathogenetic treatment with the preparation of monoclonal antibodies to fibroblast growth factor-23 — Burosumab, unregistered in the territory of the Russian Federation, was started. The dynamics of growth and laboratory data on the background of treatment is positive. Conclusion. Timely diagnosis of rare forms of rickets-like diseases is important to improve the quality of life of patients. |
| format | Article |
| id | doaj-art-f890a9c25f534f49bd9f67b49f6caa00 |
| institution | Matheson Library |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2025-02-01 |
| publisher | Union of pediatricians of Russia |
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| series | Педиатрическая фармакология |
| spelling | doaj-art-f890a9c25f534f49bd9f67b49f6caa002025-08-03T19:21:32ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892025-02-0122110.15690/pf.v22i1.28582157Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case ReportAnna S. Nechaeva0Emma S. Grigoryan1Tatyana V. Turti2Tatiana E. Privalova3Nato D. Vashakmadze4Nina A. Krasnoshchekova5Pirogov Russian National Research Medical UniversityPirogov Russian National Research Medical UniversityPirogov Russian National Research Medical University; Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Research Institute for Healthcare Organization and Medical ManagementPirogov Russian National Research Medical University; Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryPirogov Russian National Research Medical University; Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryMorozov Children’s City Clinical HospitalBackground. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate-regulating neutral endopeptidase PHEX, predominantly expressed in osteoblasts, osteocytes and teeth. This is a rare genetic disease that has difficulties in early diagnosis, in which a multidisciplinary approach is important. Currently, a new targeted therapy has been developed, showing the first results. This article presents a case of familial X-linked hypophosphatemia.Case Report. Twin girls, premature babies, with low birth weight, having complications during the newborn period. There was low growth, late teething, delayed speech development, and varus deformity of the lower extremities in past medical history. A biochemical blood test showed an increase in the level of alkaline phosphatase, hypophosphatemia, and a decrease in the level of tubular phosphorus reabsorption. The characteristic signs of rickets were recorded on the X-rays. Phosphorous buffer preparations, the active form of vitamin D, were used in the treatment. The analysis of 166 genes responsible for bone pathology was carried out using high-performance parallel sequencing using the target panel “Hereditary diseases of the skeleton”, and a mutation in the PHEX gene was identified. At the age of 4 years and 8 months, a clinical diagnosis was established: X-linked dominant hypophosphatemic rickets. Heterozygous mutation c.1568+1G>A in the PHEX gene. Somatic stunting. Taking into account the O-shaped deformity of the legs, the girls underwent corrective osteotomy on the left tibia. At 6.5 years of age, haemiepiphysiodesis. At the age of 8, pathogenetic treatment with the preparation of monoclonal antibodies to fibroblast growth factor-23 — Burosumab, unregistered in the territory of the Russian Federation, was started. The dynamics of growth and laboratory data on the background of treatment is positive. Conclusion. Timely diagnosis of rare forms of rickets-like diseases is important to improve the quality of life of patients.https://www.pedpharma.ru/jour/article/view/2576case reporthypophosphatemic ricketsdeformities of the legsfibroblast growth factor-23phexhypophosphatemiahyperphosphaturiaburosumab |
| spellingShingle | Anna S. Nechaeva Emma S. Grigoryan Tatyana V. Turti Tatiana E. Privalova Nato D. Vashakmadze Nina A. Krasnoshchekova Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report Педиатрическая фармакология case report hypophosphatemic rickets deformities of the legs fibroblast growth factor-23 phex hypophosphatemia hyperphosphaturia burosumab |
| title | Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report |
| title_full | Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report |
| title_fullStr | Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report |
| title_full_unstemmed | Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report |
| title_short | Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report |
| title_sort | hypophosphatemic rickets in patients from bichoric biamniotic twins a case report |
| topic | case report hypophosphatemic rickets deformities of the legs fibroblast growth factor-23 phex hypophosphatemia hyperphosphaturia burosumab |
| url | https://www.pedpharma.ru/jour/article/view/2576 |
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