MUKOPOLISAKARIDOSIS TIPE 2 DENGAN HIPERTIROID
DIN ALFINA, dr. Endy Paryanto Prawiro Hartono, MPH, SpAK, dr. Roni Naning, M.Kes, SpAK
2017 | Tesis-Spesialis | SP ILMU KESEHATAN ANAKMukopolisakaridosis (MPS) adalah suatu kelainan genetik yang sangat jarang (2,04 tiap 100.000 kelahiran hidup, bervariasi antar tipe dan wilayah) dan menyebabkan defisiensi enzim mukopolisakarida. Kecuali pada tipe II, MPS adalah kelainan yang diturunkan dengan pola autosomal resesif yang dapat mengenai jenis kelamin laki-laki maupun perempuan. MPS dibagi menjadi tujuh tipe berdasarkan jenis defisiensi enzim, yaitu MPS tipe I (Hurler syndrome), tipe II (Hunter syndrome), tipe III (Sanfilippo), tipe IV (Morquio), tipe VI (Maroteaux-Lamy), tipe VII (Sly) dan tipe IX. Heterogenitas klinis yang luas dan angka kejadian yang jarang menimbulkan kesulitan penegakan diagnosis. Walaupun kelainan ini mempunyai prognosis yang buruk, namun penegakan diagnosis secara dini dapat meningkatkan kualitas hidup penderita serta memperlambat maupun mencegah deformitas yang ireversibel 2,5. Gambaran klinis yang paling sering muncul pada MPS adalah bentuk wajah kasar, corneal clouding, leher pendek dan kaku, infeksi pernafasan berulang, mengorok atau nafas berbunyi, riwayat operasi hernia, perawakan pendek, perut besar, kontraktur sendi, claw hand, deformitas tulang belakang dan keterlambatan perkembangan. Pasien yang dicurigai menderita MPS harus dilakukan pemeriksaan analisis kadar glukosaminoglikan urin dan aktifitas enzim tersebut pada darah. Tatalaksana pada MPS mencakup keahlian multidisipliner seperti THT, ortopedi, kardiologi, respirologi, tumbuh kembang dan fisioterapis. Pengobatan spesifik adalah dengan cangkok sumsum tulang dan terapi sulih enzim dengan enzim rekombinan dan baru bisa pada MPS tipe I, II dan VII. Harapan hidup pada MPS sangat bervariasi tergantung dengan tipe yang diderita. MPS tipe III, VII dan bentuk berat dari tipe I dan II akan mengalami retardasi mental. MPS tipe II pada umumnya hanya bertahan sampai dekade dua dan kegagalan respirasi (56 persen) dan kegagalan kardiovaskuler (18 persen) merupakan penyebab tersering dari kematian.
Mucopolysaccharidoses (MPS) is a rare genetic disorder caused by a deficiency in the activity of lysosomal enzyme required for glycosaminoglycan (GAG) degradation. An accumulation of GAG in many organs results in progressive cellular damage, and clinically makes a joint stiffnes, airway and cardiac as well as, mental and hearing impairments. Incidence of MPS was 2.04 per 100,000 live birth, but varies depending on type and region. In Taiwan, MPS type 2 was the most prevalent MPS with incidence 1.07 per 100,000 live birth. 1 MPS is inhereted with autosomal recessive pattern, except for MPS II that is an X-linked recessive disorder.2 There are seven types of MPS (MPS I, II, III, IV, VI, VII and IX) based on enzyme deficits.3 The types of MPS with their enzyme deficiencies are listed in Table 1. MPS shows wide clinical heterogenity, therefore it is difficult to diagnose. Skeletal involvements in MPS include coarse face, loss of joint range of motion, restricted mobility, growth slowing and became short stature. Other signs and symptoms include vision and hearing loss, recurrent respiratory infection, obstructive sleep apnea, hepatosplenomegaly, umbilical and inguinal hernia, hydrocephalus, spinal cord compression and cognitive impairment.2,4 Patients with suspicion of MPS should have laboratory testing for urinary GAG analyses and enzyme activity assays in tissue (blood or fibroblast). Elevation of GAG in the urine, as compared with GAG levels expected in a-ge-matched normal subject, is the first diagnostic approach. Devinitive specific diagnosis for MPS are based on enzyme activity assays from cultured fibroblasts, leucocytes, plasma or serum.2,5,6 The management of MPS patients requires multydiciplinary subspecialities such as ENT, orthopedics, cardiology, respirology, growth and development, and physiotherapy. Specific treatments for MPS are hematopoietic stem cell transpantaion (HSCT) and enzyme-replacement therapy (ERT) with recombinant human enzyme for MPS I, II and VI.3,6,7,8 Life expectancies in MPS may vary between types but generally is markedly reduced. MPS III and VII and severe forms of MPS I and MPS II have mental retardation. Patient with MPS II usually only survive until the second decade of life, and respiratory failure was the leading cause of death (56 percent), followed by cardiac failure (18 percent).9,10
Kata Kunci : Hunter syndrome, mucopolysaccharidoses, hyperthyroidism, Sindrom Hunter, Mukopolisakaridosis, hipertiroidisme
