Neirofibromatozes I klīniskās izpausmes bērnu vecumā Latvijā.
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Date
2022
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Publisher
Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
Pētījuma mērķis – noteikt fenotipiskās izpausmes Latvijas bērnu populācijā līdz 18 gadiem, kuriem noteikta neirofibromatozes I tipa diagnoze, ievākt literatūras datus par šo saslimšanu un salīdzināt literatūras datus ar noteiktajiem pētījuma datiem.
Retrospektīvā šķērsgriezuma populācijas pētījumā tika identificēti 145 pacienti vecumā līdz 18 gadiem, kuriem bija noteikta neirofibromatozes I tipa saslimšana. Tika ievākti dati par pacientu fenotipiskajām izpausmēm no pacientu medicīniskājām kartēm un no Bērnu klīniskās universitātes informācijas sistēmām un programmām – “Saule”, “Andromeda”. Papildus multipliem cafe au lait plankumiem (95,2%) bija sastopamas zemādas, ādas neirofibromas (37,2%), aksilāri/inguināli vasaras raibumi (51,7%), Liša mezgli varavīksnenē (18,6%), optiskas gliomas (20%), kā arī pseidoartroze (1,4%), kuri kalpo par klīniskiem diagnostiskajiem kritējiem neirofibromatozes I tipa diagnostikai. Tika izvērtēti arī citi klīniskie simptomi, kuri netiek iekļauti klīniskajos kritērijos diagnozes apstiprināšanai.
Salīdzinot retrospektīvā pētījuma datus ar literatūras datiem par pediatrisku populāciju, tika secināts, ka astigmātisms, optiskā trakta gliomas, mācīšanās un uzvedības traucējumi, kā arī intelektuālās attīstības traucējumi nesatur statistiski nozīmīgas atšķirības. Taču visas pārējās klīniskās izpausmes, salīdzinot ar literatūras datiem, saturēja statistiski nozīmīgas atšķirības. Divdesmit deviņiem pacientiem tika veikta NF1 gēna ģenētiskā testēšana, no kuriem heterozigots patogēns NF1 gēna variants tika noteikts sešpadsmit pacientiem. Pirmās pakāpes radinieks ar NF1 diagnozi tika noteikts 30,34% visu pacientu.
The aim of the study was to determine the phenotypic manifestations in the Latvian pediatric population under 18 years of age diagnosed with neurofibromatosis type I, to collect literature data on this disease and to compare the literature data with the determined study data. A retrospective cross-sectional population study identified 145 patients under 18 years of age with neurofibromatosis type I disease. Data on patients phenotypic manifestations were collected from patients medical records and from the “Bērnu klīniskās universitātes slimnīca” information systems and programs - "Saule", "Andromeda". Phenotypic manifestations included multiple cafe au lait spots (95.2%) subcutaneous/cutaneous neurofibromas (37.2%), axillary / inguinal freckles (51.7%), iris nodules in the iris (18.6%), optical gliomas ( 20%) and pseudoarthrosis (1.4%), which serve as clinical diagnostic criteria for the diagnosis of neurofibromatosis type I. Other clinical symptoms not included in the clinical criteria for confirmation of the diagnosis were also assessed. Comparing the data from the retrospective study with the literature on the pediatric population, it was concluded that there were no statistically significant differences between astigmatism, optic gliomas, learning and behavioral disabilities as well as intellectual disabilities. However, all other clinical manifestations contained statistically significant differences compared to the literature. Twenty-nine patients underwent genetic testing for the NF1 gene, of which a heterozygous pathogenic NF1 gene variant was identified in sixteen patients. A first-degree relative diagnosed with NF1 was identified in 30,34 % of all patients.
The aim of the study was to determine the phenotypic manifestations in the Latvian pediatric population under 18 years of age diagnosed with neurofibromatosis type I, to collect literature data on this disease and to compare the literature data with the determined study data. A retrospective cross-sectional population study identified 145 patients under 18 years of age with neurofibromatosis type I disease. Data on patients phenotypic manifestations were collected from patients medical records and from the “Bērnu klīniskās universitātes slimnīca” information systems and programs - "Saule", "Andromeda". Phenotypic manifestations included multiple cafe au lait spots (95.2%) subcutaneous/cutaneous neurofibromas (37.2%), axillary / inguinal freckles (51.7%), iris nodules in the iris (18.6%), optical gliomas ( 20%) and pseudoarthrosis (1.4%), which serve as clinical diagnostic criteria for the diagnosis of neurofibromatosis type I. Other clinical symptoms not included in the clinical criteria for confirmation of the diagnosis were also assessed. Comparing the data from the retrospective study with the literature on the pediatric population, it was concluded that there were no statistically significant differences between astigmatism, optic gliomas, learning and behavioral disabilities as well as intellectual disabilities. However, all other clinical manifestations contained statistically significant differences compared to the literature. Twenty-nine patients underwent genetic testing for the NF1 gene, of which a heterozygous pathogenic NF1 gene variant was identified in sixteen patients. A first-degree relative diagnosed with NF1 was identified in 30,34 % of all patients.
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
Neirofibromatoze, multipli cafe au lait plankumi, zemādas, ādas neirofibromas, aksilāri/inguināli vasaras raibumi, Liša mezgli varavīksnenē, optiskas gliomas, pseidoartroze., Neurofibromatosis, cafe au lait spots, skin neurofibroma axillary / inguinal freckles, iris nodules in the iris, optical gliomas, and pseudoarthrosis.