KASUS PANJANG BRONKIEKTASIS PADA SINDROM ATAKSIA TELEANGIEKTASIA

ASRI PARANTRI, dr. Rina Triasih, M.Me,(Paed), Ph.D,SpA(K) dan Prof. dr. Madarina Julia, PhD, SpA(K)

2020 | Tesis-Spesialis | ILMU KESEHATAN ANAK

Sindrom ataksia teleangiektasia (A-T) merupakan kelainan autosom resesif akibat adanya mutasi pada gen ATM. Gambaran klinis yang muncul adalah gangguan neurologis (ataksia serebellar, disarthria, drooling, apraksia okular, dan koreoathetosis), imunodefisiensi (defisiensi antibodi dan limfopenia), infeksi sinopulmonal yang berulang, kerentanan terhadap keganasan, kelainan kulit telangiektasia dan penuaan kulit dan rambut. Penyakit ini sangat jarang yakni antara 1 sampai 2.5 per 100.000. Penyakit respirasi merupakan morbiditas dan mortalitas tersering pada sindrom A-T. Salah satu manifestasi kelainan paru adalah bronkiektasis, berupa dilatasi abnormal yang permanen pada bronkus akibat kerusakan dinding bronkus. Tatalaksana bronkiektasis pada sindrom ataksia teleangiektasia memiliki tantangan tersendiri karena melibatkan kolaboratif berbagai divisi ilmu. Telah dilakukan pengamatan dan intervensi selama 18 bulan terhadap seorang anak yang terdiagnosis berdasarkan klinis gangguan koordinasi, gambaran teleangiektasia okular, peningkatan kadar AFP, serta gambaran bronkiektasis pada MSCT. Fisioterapi, pemberian nutrisi, imunisasi, deteksi dini keganasan serta imunodefisiensi, tatalaksana eksaserbasi bronkiektasis, pemantauan progresivitas klinis ataksia teleangiektasia, serta kepatuhan terapi telah diupayakan untuk menekan progresivitas gangguan neurologi dan mempertahankan kualitas hidup pasien. Pada pengamatan publikasi ini pasien mengalami imunodefisiensi dan keterlambatan pubertas, namun belum didapatkan keganasan pada pasien. Setelah intervensi dilakukan, didapatkan perbaikan skor derajat keparahan ataksia dan kurva status gizi.

Ataxia teleangiectasia (A-T) syndrome is an autosomal recessive disorder due to mutations in the ATM gene. Clinical features that emerge are neurological disorders (cerebellar ataxia, dysarthria, drooling, ocular apraxia, and choreoathetosis), immunodeficiency (antibody deficiency and lymphopenia), recurrent synopulmonal infections, susceptibility to malignancy, ocularectal skin disorders and choreoathetosis), immunodeficiency (antibody deficiency and lymphopenia), recurrent sinopulmonal infections, susceptibility to malignancy, ocularectal skin disorders and skin and hair aging. This disease is very rare which is between 1 to 2.5 per 100,000. Respiratory disease is the most common morbidity and mortality in A-T syndrome. One manifestation of pulmonary abnormalities is bronchiectasis, in the form of permanent abnormal dilatation of the bronchi due to damage to the bronchial walls. The management of bronchiectasis in ataxia teleangiectasia syndrome has its own challenges because it involves the collaboration of various divisions of science. 18 months of observation and intervention had been made on a child diagnosed based on clinical sign, elevated levels of AFP, and features of bronchiectasis on MSCT. Physiotherapy, nutrition, immunization, early detection of malignancy and immunodeficiency, management of exacerbations, monitoring of clinical progression of teleangiectasia ataxia, and therapeutic compliance had been sought to suppress the progression of neurological disorders and maintain the quality of life of patients. In this publication patients experienced immunodeficiency and delay in puberty, but malignancy had not been found in patients. After the intervention, the severity score of ataxia and nutritional status was improved

Kata Kunci : ataksia-teleangiektasia, bronkiektasis, anak,