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馬偕小兒科-林炫沛 遺傳主任

Dr. Shuan-Pei Lin is a clinical geneticist and pediatrician.

He is presently the Director of Division of Genetics and Metabolism, Departments of Pediatrics and Medical Research at Mackay Memorial Hospital in Taipei and Assistant Professor of Department of Infant and Child Care,National Taipei College of Nursing, and Department of Early Childhood Care and Education, Mackay Medicine,Nursing and Management College in Taipei , Taiwan . His areas of research interest are human congenital malformations and inherited metabolic disorders.

Dr. Shuan-Pei Lin was born in Taichung , Taiwan . He spent his childhood and received basic education up to senior high school in his hometown. He attended Kaohsiung Medical University Medical College and received intern training at Changhua Christian Hospital in central Taiwan . He received his M.D. in 1980. He did his pediatric training at Mackay Memorial Hospital in Taipei, Taiwan after serving two years at sea as naval medical officer,and clinical fellowship at Department of Human Genetics, Yale University Medical School in Connecticut, USA.

He has published over 120 SCI papers, 8 chapters (7 are in Chinese) and more than 55 abstracts/sections of conference proceedings, and 5 books (all are in Chinese). Among these publications, 10 original papers are about mucopolysaccharidoses.

He is now the Board Member and Vice-president of IPWSO, Board Member of Taiwan Human Genetics Society , Taiwan Pediatric Association, Taiwan MPS Society,Down Syndrome Foundation of ROC, and Taiwan Foundation for Rare Disorders He is also the Committee Member of Deliberation Committee for Rare Diseases and Orphan Drugs, Department of Health, Taiwan , Committee of Promotion for Early Intervention, Taipei City Government, Taiwan , Committee of Continuous Medical Education, Taipei Medical Association, Taiwan , Committee of Early Intervention for Disabled Children, Mackay Memorial Hospital , Taipei , Taiwan . He serves voluntarily as the Medical Consultant of PWSA-Taiwan , Taiwan MPS Society , Taiwan OI Association, Taiwan Albinism Association, and Taipei Disability Swimming Associations.

Why is it important to diagnose and treat early?
早期診斷與治療的重要性
Dr. Shuan-Pei Lin
Division of Genetics and Metabolism, Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan

Mucopolysacharidoses (MPS) are a major subgroup of inherited lysosomal storage diseases (LSDs), caused by deficiency of any of the 11 known lysosomal enzymes that fails to degrade glycosaminoglycans (GAGs;mucopolysaccharides). Lysosomal enzymes break down macromolecules (such as GAGs, sphingolipid and glycogen), and inherited defects or deficiencies of lysosomal enzymes (or other lysosomal components) can result in accumulation of undegraded metabolites --- that’s why the name lysosomal storage disease is originated.

The clinical manifestations of MPS are chronic and progressive. The severity and prognosis are in variable degree different from one phenotype to the other, and a wide spectrum of clinical severity within one enzyme deficiency is not uncommon. The clinical features of MPS may present from birth to late childhood or even early adulthood depending on the severity of the MPS phenotypes. Death from respiratory or cardiac failure and respiratory infections usually occurs before the age of 10 years in severe phenotypes.

The most advanced therapies for the MPS are stem cell transplantation especially bone marrow transplantation,enzyme replacement therapy (ERT), and gene therapy. However, chronic and progressive deposition of GAGs in connective tissue and skeletal system may start as early as fetal stage and will result in irreversible change of the tissues and organs in the long run. The key of having good treatment results would be early diagnosis and early treatment. Surprisingly the early clinical presentations are usually non-specific. Early symptoms or signs may be:

  • Chronic rhinitis, sinusitis, otitis, “glue ear”•Mild skeletal deformities, joint stiffness and trigger fingers
  • Restricted mobility and walking problems••Recurrent umbilical and/or inguinal hernia
  • Limited endurance
  • Recurrent diarrhea
  • Cardiac murmur
  • Large head size
  • Large abdomen
  • Short stature
  • Stocky buildThe clinical presentations may develop very early in life and evolve with time. The more prominent the clinical symptoms and signs are and the earlier they present, the poorer prognosis the child might face. It is the deposition of GAGs in bone matrix and connective tissue that gives rise to the deformity and ailment MPS patients possess. Good timing for effective therapies to intervene must be far before any irreversible changes starting to exert the terrible effects. Caregivers and medical professionals, therefore, should be more alert to those non-specific early symptoms or signs to gain a chance of early treatment, and hopefully a good prognosis for the MPS children. In the near future, newborn screening for MPS may play an important role in the mission of early diagnosis.

Enzyme replacement therapy for mucopolysacharidosis
types I, II and VI
現階段的黏多醣症酵素替補療法
Dr. Shuan-Pei Lin
Division of Genetics and Metabolism, Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan

Enzyme replacement therapy (ERT) as treatment for lysosomal storage diseases (LSDs) was first suggested by de Duve and Wattiaux in 1966. Mucopolysacharidoses (MPS) are a major subgroup of inherited LSDs, caused by the defective degradation of large molecule glycosaminoglycans (GAGs;mucopolysaccharides). Specific lysosomal enzyme deficiencies lead to accumulation of GAGs and cause various clinical manifestations mainly affecting connective tissues and skeletal system. ERT using specific recombinant lysosomal enzyme has been proved to be very useful in treating MPS if it starts early enough in the disease process.

The safety and effectiveness of ERT for MPS I, II and VI have been demonstrated in well-designed clinical trials,and the treatments are now commercially available throughout the world. In Taiwan, we started to treat the first MPS patient, an MPS IH/S young man, with Aldurazyme® in 2002. Then, an MPS VI girl was enrolled in the phase III clinical trial in 2004 and stayed in the trial for one whole year. She was switched to National Health Insurance (NHI) endorsed Naglazyme® therapy in 2005. In March 2007, the 1st MPS II patient received ERT with Elaprase®. At present, all the expense of ERT with these three drugs is reimbursed by a special NHI program.Up to now, there are totally 5 MPS I, 5 MPS II (3 under clinical trial not included) and 8 MPS VI patients receiving ERT. Weekly intravenous infusions of specific recombinant enzymes have been shown to improve many of the signs and symptoms and overall well-being in the patients. After one year of treatment, almost every patient experienced significant improvements in the 12-minute walk test, coin picking, 3-minute stair climbing, and sleep quality. A prominent decrease of urinary GAGs was also documented, indicating that a satisfactory biochemical response is achieved by ERT.

 

     
 
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