Congenital Disease Treatment in Taiwan 先天性疾病治疗

马偕纪念医院先天性疾病的医疗照顾团队，成就傲视亚洲，我们期待有更多先天性疾病患者及早被诊断及被疗育，也会在预防及治疗上更加努力，期待有更多更新的突破。

新闻报导
》》黏多醣患者重然希望 大陆小甜甜来台检测
》》大陆、印尼黏宝宝 来台寻生机
》》（Video)奔走25年 马偕医院林炫沛 为罕病找生机
》》首届中国黏多醣罕病北京论坛
》》马偕医院小儿部-水到渠成的团队合作

请联络我们(mmhimsc@ms2.mmh.org.tw)或是在线预约以了解进一步信息

★何谓先天性疾病  出生时，甚至产前阶段即已发生的疾病，在新生儿的出现率达 2~5% 。 先天性疾病的发生大多与基因或染色体的缺失有关，约占所有病因的百分之六、七十。 其余的三分之一则为原因不明。 主要分为染色体疾病、先天性异常 ( 畸形 ) 、先天性代谢异常及罕见疾病等。 ★容易发先天性疾病的人群 ＊有家族病史或近亲结婚者，应于婚前或产前阶段接受检测。 ＊新生儿及婴幼儿接受医生例行检查，发现有不明原因的异常或智能发展迟缓时，应及早就医进行详细的评估与诊治。 ★检查流程  门诊检查 : 1. 遗传专科医生咨询评估。 2. 抽血 ( 包括染色体检查、特殊生化学分析及基因检查等 ) 。 3. 超声波、计算机断层扫描（ CT ）及 核磁共振 成像 等精密检查。 4. 跨科团队会诊：按照病情需要，安排各相关次专科医生会诊。 5. 安排必要的产前检查（高解像度超声波检查、羊水检验分析等）。 ★马偕先天性疾病医疗团队： 专科医生、咨询员、护理人员、技术员、营养师、心理医生、心理治疗师、专业复健治疗师及社工人员 ★常见先天性疾病的种类、症状及疗育  天性疾病有上万种，以下为常见种类的说明： 病 名 症 状 疗 育 黏多醣症 ( 俗称黏宝宝或醣豆豆 ) 出生时并无异样，但随着黏多醣日渐堆积，会逐渐出现身材矮小长不高、头颅变大、浓眉、角膜混浊、多毛、鼻梁塌陷、嘴唇厚实、舌头变大、关节变形等症状 第一、第二与第六型患者给予酵素注射治疗，有显著的疗效；第一及第六型患者也可考虑骨髓移植 唐氏症 除了典型的外表变化及智能发展迟缓外，也常会合并先天性心脏病或其它的异常 及早与积极的照顾，对于各种并发症可有效控制，生活质量与寿命均可改善 苯酮尿症 毛发呈现黄褐色、皮肤苍白干燥、尿液有异味及智能障碍，亦可能有严重抽搐、生长发育迟缓现象 若在新生儿期得到诊断与及时的特殊治疗，疗效甚佳，智商有可能达到正常人的标准 先天性脆骨症  ( 俗称玻璃娃娃或 搪瓷娃娃 ) 为骨头易碎及会重复性骨折的特殊遗传疾病，常合并蓝巩膜、牙齿珐琅质异常、尖下巴、骨骼关节变形、身材矮小等症状 以支持性疗法预防骨折，使用辅助器协助患童的日常活动，再加上药物治疗以加强骨质密度等，疗效显著 软骨发育不全症 ( 俗称小小人儿 ) 又称侏儒症，肢体短小、 四肢及躯干比例不正常，突额、鼻梁塌陷，可能合并水脑、脊椎曲度大、 O 型腿、扁平足等 支持性疗法，以及在 身高不足、躯干腿骨变形或脑部病变时可实行手术治疗 重型地中海型贫血 是一种遗传性的贫血病， 会显现额骨突出、两侧颧骨高、上颚骨外突造成暴牙、身材矮小，形成一大特征 临床症状分为重、中、轻度及无症状四种程度，也因此有不同的治疗及效果。 以定期输血及排铁剂治疗，或者骨髓移植为主 高血氨症 出生时无明显异样，开始进食喂奶后，便会有呕吐、喂食困难、吸吮力差、呼吸急促、倦怠、意识状况逐渐恶化而至昏迷，常会出现痉挛 须靠食物控制与药物双管其下治疗，严重时必须注射排氨药物并洗肾 普瑞德 - 威利症候群 ( 俗称小胖威利 ) 新生儿时期出现哭声弱、吸吮力差、四肢活动力差、外生殖器发育不良等现象，有的因喂食困难，还须长期用鼻胃管喂食。 1~2 岁时期，病童忽然胃口改善、食欲变得异常的好，体重也急速增加，但是除了身体不断发胖之外，却长不高、智能发展呈现迟缓 通过从小饮食控制，避免肥胖引起的并发症，且及早给予生长激素治疗，改善身体成长状况，或针对肌肉张力不足给予康复治疗，若是有异常行为及情绪的问题时，须接受心理矫治及行为治疗

Mackay Memorial Hospital 's special team for congenital disease has wonderful achievements and won good reputation in Asia . We not only provide early diagnosis and treatment for patients with congenital diseases but also put great efforts in the prevention of the disease. We are working hard to make more breakthroughs to help people in need.


You contact us via (mmhimsc@ms2.mmh.org.tw) for the detail of treatment or Make Appointment at our official site.

★What is congenital disease?     •  Disease occurs at birth or even before birth. The incidence is 2~5% in newborn.    •  The percentage of congenital disease related to genetic or chromosome defects was 60~70%.    •  The other 30% of etiology was unknown.    •  Can be categorized into chromosome disorders, congenital anomalies (malformations), inherited metabolic disorders and rare diseases. ★The group at risk of congenital disease      •  People who have positive family history or consanguineous marriages should be examined in premarital or prenatal period.    •  Newborns or infants who were found to have unexplained developmental delay or mental retardation should be evaluated as soon as possible. ★Examination process  Out-patient examination:     •  Thorough assessment by genetics specialists.    •  Blood exam, including chromosome analysis, specific biochemical analyses and molecular studies, etc..     •  Image studies, including ultrasound, computed tomography and magnetic resonance examination, etc.     •  Interdisciplinary team consultation: The arrangement will be planned in accordance with the patient's condition for relevant sub-specialist consultations.     •  Arrangements for necessary prenatal examinations, including high-resolution ultrasound examination, maternal serum screening, amniocentesis for special tests, etc.). ★Mackay Memorial Hospital 's special team for congenital disease Physicians Counselors Nurses Technicians Nutritionists Psychiatrists Psychotherapists Physiotherapists Social workers ★Common congenital diseases, symptoms and treatment There are more than 10,000 kinds of congenital diseases, the description of the common ones is as follows: Disease Symptoms Treatment Mucopolysaccharidoses (MPS) No abnormalities at birth, but with the increasing accumulation of mucopolysaccharide, the patient will gradually present with short stature, large head, coarse face, corneal opacity, hirsutism, depressed nasal bridge, thick lips, large tongue, claw hands and joint deformation. Type I, II and VI patients can be treated with special enzyme; patients with type I and VI MPS can also be treated by bone marrow transplantation. Down syndrome In addition to the characteristic appearance and psychomotor retardation, the disease is also often combined with congenital heart disease or other abnormalities. Early and aggressive care can reduce the complications effectively and improve the quality of life. Phenylketonuria If not treated early, the patient will present with yellowish-brown hair, pale dry skin, smelly urine, mental retardation, serious convulsions, and growth retardation. If early diagnosis and treatment were provided during the neonatal period, the outcome is very good and the IQ can achieve normal range. Osteogenesis imperfecta (commonly known as brittle bone disease) Brittle bones with repetitive fractures, blue sclera, dentinogenesis imperfecta (dental enamel anomaly), pointed chin, joint deformity, short stature and other symptoms. Prevention of fractures with supportive care, assisting the child's daily activity with special device, and to improve bone density with bisphosphonate therapy. Achondroplasia Also known as dwarfism; the patient has short limbs, abnormal proportion of limbs and trunk, frontal bossing, depressed nasal bridge, hydrocephalus, lordosis and scoliosis, bow legs, flatfoot, etc. Supportive treatment, surgery for correcting short stature, trunk and limb deformities, or hydrocephalus . Severe thalassemia (Thalassemia major) An inherited anemic disease presented with prominent frontal bone, high cheekbones, protruding maxillary bone, and short stature. Treatment depends on the subtypes and clinical severity. Regular blood transfusions, iron chelating agent therapy , and/or bone marrow transplantation are the most common medical treatments. Hyperammonemia (Urea cycle disorders) No obvious abnormalities at birth. After feeding, there will be vomiting, feeding difficulty, poor sucking, shortness of breath, easy fatigue, convulsions and a gradual deterioration of consciousness to comatose status. Combined therapy with protein restriction and special drugs. Patients with severe clinical presentation must be treated with ammonia depletion agents and renal dialysis. Prader-Willi Syndrome In neonatal period, it appears with weak cry, poor sucking, hypotonia and hypoplasia of external genitalia. Some babies need long-term use of nasogastric tube due to feeding difficulties. During 1~2 year old period, the affected children would suddenly improve in appetite with rapid weight gain. Short stature and mental retardation are also commonly observed. To avoid complications caused by obesity, diet control should start from an early age. Early growth hormone treatment and physiotherapy would improve growth condition and muscle tone. If there are behavioral and emotional problems, psychological and behavioral therapy must be arranged.