3 gadus un 7 mēnešus vecs zēns ar IV tipa Osteogenesis Imperfecta - ceļš līdz diagnozei un slimības vadīšana: klīniskā gadījuma apraksts
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Date
2020
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Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Ievads. Osteogenesis imperfecta (OI) ir reta (1:20 000) ģenētiska saslimšana, kuras spilgtākā izpausme ir kaulu trauslums. Slimības etioloģija 80% gadījumu – mutācijas COL1A1 un COL1A2 gēnos, kuri kodē pirmā tipa prokolagēnu (I līdz IV tips pēc Sillenca – autosomāli dominantas formas). Slimības vadīšanā nozīmīga multidisciplināra pieeja.
Gadījuma apraksts. Zēns dzimis 2016. gada 20. martā no 1. grūtniecības, 38. gestācijas nedēļā. Dzimšanas svars – 3.180 kg (36. procentīle), garums – 51 cm (72. procentīle), galvas apkārtmērs – 35 cm (66. procentīle), krūšu apkārtmērs – 33 cm. Apgares skala 8/9. Otrajā dzīves dienā tika diagnosticēts augšstilba kaula lūzums dzemdību traumas dēļ. Tika veikta slēgta repozīcija, imobilizācija ar koksīta ģipsi un turpmāka ortopēda novērošana. Turpmāko pāris mēnešu laikā pacients atkārtoti vērsies Uzņemšanas nodaļā ar sūdzībām par aizcietējumiem un izteiktu raudāšanu kustību laikā. Pēc atkārtota labā augšstilba kaula lūzuma 3 mēnešu vecumā, tika apspriests ģenētisks lūzumu cēlonis. DNS sekvenēšana (mutācija COL1A2 gēnā) apstiprināja diagnozi – Osteogenesis imperfecta.
Līdz šim pacients ir saņēmis ciklisku i/v Bisfosfonātu (Acidum zoledronicum Latvijā un Pamidronate Disodium specializētā klīnikā Krievijā) terapiju, piedzīvojis 21 rentgenoloģiski apstiprinātu lūzumu un 7 operācijas – osteosintēzes ar Rush stieņiem Latvijā un Fassier-Duval teleskopiskajiem stieņiem Krievijā.
Pacientam nozīmētas dažādas fizikālās procedūras 5 reizes nedēļā. Zēna svars šobrīd ir 12.9 kg (5. procentīle), augums – 94 cm (9. procentīle).
Secinājumi. Dzemdību laikā gūtu lūzumu cēloņa noteikšana ir izšķiroša pacienta tālākās terapijas nozīmēšanā. Klīniskā izmeklēšana, radioloģiskie, laboratorie izmeklējumi, ieskaitot ģenētiskos testus, ir jāapsver, it īpaši atkārtotu lūzumu gadījumos. OI ir slimība, kas pieprasa ilgstošu, mūsdienīgu vadīšanu un terapiju, lai mazinātu deformāciju un komplikāciju attīstību.
Introduction. Osteogenesis imperfecta is a rare (1:20 000) genetic disorder of bone fragility mainly caused by mutations in the COL1A1 and COL1A2 genes (80% of OI cases) that encode type I procollagen (Type I to IV by Sillence – autosomal dominant forms). A multidisciplinary approach is required to manage the disease. Case description. A boy was born on 20th of March 2016 from 1st pregnancy at 38 weeks of gestation. His weight was 3.180 kg (36th percentile), height – 51 cm (72nd percentile), head size – 35 cm (66th percentile), chest size – 33 cm. Apgar score 8/9. On the second day femoral fracture due to birth trauma was diagnosed. Closed reposition, spica cast immobilization and observation by orthopaedic surgeon was done. In the next several months patient was consulted in Emergency Department 3 times due to constipation and excessive crying during movements. After repeated right femoral shaft fracture at the age of 3 months genetic disease was considered. DNA sequencing (mutation in the COL1A2 gene) confirmed a diagnose - Osteogenesis imperfecta. Until now patient has received cyclic i/v Bisphosphonate (Acidum zoledronicum in Latvia and Pamidronate Disodium in specialized clinic in Russia) therapy, experienced 21 fractures and underwent 7 surgeries - osteosynthesis with both Rush nails in Latvia and Fassier-Duval telescopic rods in Russia. Patient goes to different physical procedures 5 times per week. Patient’s weight now is 12.9 kg (5th percentile), height – 94 cm (9th percentile). Conclusions. Identification of the cause of fracture after delivery is crucial for patient’s further management. Therefore, clinical evaluation, radiological, laboratory tests, including genetic studies, should be considered, especially in cases with repeated fractures during infancy. Osteogenesis imperfecta is a condition that needs life-long up-to-date management to prevent deformity and complications.
Introduction. Osteogenesis imperfecta is a rare (1:20 000) genetic disorder of bone fragility mainly caused by mutations in the COL1A1 and COL1A2 genes (80% of OI cases) that encode type I procollagen (Type I to IV by Sillence – autosomal dominant forms). A multidisciplinary approach is required to manage the disease. Case description. A boy was born on 20th of March 2016 from 1st pregnancy at 38 weeks of gestation. His weight was 3.180 kg (36th percentile), height – 51 cm (72nd percentile), head size – 35 cm (66th percentile), chest size – 33 cm. Apgar score 8/9. On the second day femoral fracture due to birth trauma was diagnosed. Closed reposition, spica cast immobilization and observation by orthopaedic surgeon was done. In the next several months patient was consulted in Emergency Department 3 times due to constipation and excessive crying during movements. After repeated right femoral shaft fracture at the age of 3 months genetic disease was considered. DNA sequencing (mutation in the COL1A2 gene) confirmed a diagnose - Osteogenesis imperfecta. Until now patient has received cyclic i/v Bisphosphonate (Acidum zoledronicum in Latvia and Pamidronate Disodium in specialized clinic in Russia) therapy, experienced 21 fractures and underwent 7 surgeries - osteosynthesis with both Rush nails in Latvia and Fassier-Duval telescopic rods in Russia. Patient goes to different physical procedures 5 times per week. Patient’s weight now is 12.9 kg (5th percentile), height – 94 cm (9th percentile). Conclusions. Identification of the cause of fracture after delivery is crucial for patient’s further management. Therefore, clinical evaluation, radiological, laboratory tests, including genetic studies, should be considered, especially in cases with repeated fractures during infancy. Osteogenesis imperfecta is a condition that needs life-long up-to-date management to prevent deformity and complications.
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
Osteogenesis imperfecta, trauslo kaulu slimība, skeleta displāzija, Lobšteina slimība, kolagēns, dzemdību trauma, Osteogenesis imperfecta, brittle bone disease, skeletal dysplasia, Lobstein disease, collagen, birth trauma