Hurler’s Syndrome, 헐러 증후군

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Hurler’s Syndrome, 헐러 증후군

다른 병명 other disease name

원인 cause

특이 증상징후 specific symptoms and signs

그 외 증상징후 Other symptoms and signs

진단 Diagnosis

치료 treatment

참고 note

점액다당류증 I

(Mucopolysaccharidosis I)

뮤코 다낭증 I

Mucopolysaccharide I (Mucopolysaccharidosis I) Mucopolycystic I

상염색체 열성으로 유전되며 라이소소말 축적으로 생기는 병

An autosomal recessive inherited disease caused by lysosomal accumulatio

거칠은 얼굴뻣뻣한 관절정신박약각막 혼탁. Rough face, stiff joints, mental weakness, corneal opacity

성장 장애심한 정신박약주상두두개골 종대큰 입술저 비교벌렁코양안 먼 거리증망막 색소 침착증비대된 치조 융선큰 혀치아교열 이상관절 운동 제한관절 이상갈퀴손늑골 벌어짐척주 후만증심장 부전증간 비장 비대증다모증서혜부 헤르니아고관절 탈구농아비염, Dermatan sulfate와 heparan sulfate가 소변에 분비뇌 수종 등. Growth disorders, severe mental retardation, enlarged navicular cranial bones, large lips, low comparison, bulging nose, binocular distance, retinal pigmentation, hypertrophic alveolar ridge, large tongue, orthognathic abnormalities, joint movement restriction, joint abnormalities, claws , rib divergence, kyphosis, heart failure, hepatosplenomegaly, hirsutism, inguinal hernia, hip dislocation, deafness, rhinitis, dermatan sulfate and heparan sulfate secretion in urine, hydrocephalus, etc.

병력증상검진 등. Medical history, symptoms, examination, etc.


symptomatic treatment

처음에는 성장 과다 그 후 심한 성장 중지소아기에 사망. First hypergrowth, then severe growth cessation, death in childhood

<update 12/8/2021 NEJM:

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome

List of authors.

  • Bernhard Gentner, M.D.,
  • Francesca Tucci, M.D.,
  • Stefania Galimberti, Ph.D.,
  • Francesca Fumagalli, M.D.,
  • Maurizio De Pellegrin, M.D.,
  • Paolo Silvani, M.D.,
  • Chiara Camesasca, M.D.,
  • Silvia Pontesilli, M.D.,
  • Silvia Darin, R.N.,
  • Francesca Ciotti, Psy.D.,
  • Marina Sarzana, P.T.,
  • Giulia Consiglieri, M.D.,



Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications.


We are conducting an ongoing study involving eight children with MPSIH. At enrollment, the children lacked a suitable allogeneic donor and had a Developmental Quotient or Intelligence Quotient score above 70 (i.e., none had moderate or severe cognitive impairment). The children received autologous hematopoietic stem and progenitor cells (HSPCs) transduced ex vivo with an α-L-iduronidase (IDUA)–encoding lentiviral vector after myeloablative conditioning. Safety and correction of blood IDUA activity up to supraphysiologic levels were the primary end points. Clearance of lysosomal storage material as well as skeletal and neurophysiological development were assessed as secondary and exploratory end points. The planned duration of the study is 5 years.


We now report interim results. The children’s mean (±SD) age at the time of HSPC gene therapy was 1.9±0.5 years. At a median follow-up of 2.10 years, the procedure had a safety profile similar to that known for autologous hematopoietic stem-cell transplantation. All the patients showed prompt and sustained engraftment of gene-corrected cells and had supraphysiologic blood IDUA activity within a month, which was maintained up to the latest follow-up. Urinary glycosaminoglycan (GAG) excretion decreased steeply, reaching normal levels at 12 months in four of five patients who could be evaluated. Previously undetectable levels of IDUA activity in the cerebrospinal fluid became detectable after gene therapy and were associated with local clearance of GAGs. Patients showed stable cognitive performance, stable motor skills corresponding to continued motor development, improved or stable findings on magnetic resonance imaging of the brain and spine, reduced joint stiffness, and normal growth in line with World Health Organization growth charts.


The delivery of HSPC gene therapy in patients with MPSIH resulted in extensive metabolic correction in peripheral tissues and the central nervous system. (Funded by Fondazione Telethon and others; number, NCT03488394. opens in new tab; EudraCT number, 2017-002430-23. opens in new tab.)

출처 참조 문헌 Sources and references

  • NelsonTextbook of Pediatrics 22ND Ed
  • The Harriet Lane Handbook 22ND Ed
  • Growth and development of the children
  • Red Book 32nd Ed 2021-2024
  • Neonatal Resuscitation, American Academy Pediatrics
  • 제1권 소아청소년 응급 의료
  • 제2권 소아청소년 예방
  • 제3권 소아청소년 성장 발육 육아
  • 제4권 모유,모유수유, 이유
  • 제5권 인공영양, 우유, 이유식, 비타민, 미네랄, 단백질, 탄수화물, 지방
  • 제6권 신생아 성장 발육 육아 질병
  • www.drleepediatrics.com제7권 소아청소년 감염병
  • www.drleepediatrics.com제8권 소아청소년 호흡기 질환
  • www.drleepediatrics.com제9권 소아청소년 소화기 질환
  • www.drleepediatrics.com제10권. 소아청소년 신장 비뇨 생식기 질환
  • www.drleepediatrics.com제11권. 소아청소년 심장 혈관계 질환
  •  www.drleepediatrics.com제12권. 소아청소년 신경 정신 질환, 행동 수면 문제
  • www.drleepediatrics.com제13권. 소아청소년 혈액, 림프, 종양 질환
  • www.drleepediatrics.com제14권. 소아청소년 내분비, 유전, 염색체, 대사, 희귀병
  • www.drleepediatrics.com제15권. 소아청소년 알레르기, 자가 면역질환
  • www.drleepediatrics.com제16권. 소아청소년 정형외과 질환
  • www.drleepediatrics.com제17권. 소아청소년 피부 질환
  • www.drleepediatrics.com제18권. 소아청소년 이비인후(귀 코 인두 후두) 질환
  • www.drleepediatrics.com제19권. 소아청소년  안과 (눈)질환
  • 제20권 소아청소년 이 (치아)질환
  • 제21권 소아청소년 가정 학교 간호
  • 제22권 아들 딸 이렇게 사랑해 키우세요
  • 제23권 사춘기 아이들의 성장 발육 질병
  • 제24권 소아청소년 성교육
  • 제25권 임신, 분만, 출산, 신생아 돌보기
  • Red book 29th-31st edition 2021
  • Nelson Text Book of Pediatrics 19th- 21st Edition
  • The Johns Hopkins Hospital, The Harriet Lane Handbook, 22nd edition
  • 응급환자관리 정담미디어
  • Pediatric Nutritional Handbook American Academy of Pediatrics
  • 소아가정간호백과부모도 반의사가 되어야 한다이상원 저
  • The pregnancy Bible. By Joan stone, MD. Keith Eddleman, MD
  • Neonatology Jeffrey J. Pomerance, C. Joan Richardson
  • Preparation for Birth. Beverly Savage and Dianna Smith
  • 임신에서 신생아 돌보기까지이상원
  • Breastfeeding. by Ruth Lawrence and Robert Lawrence
  • Sources and references on Growth, Development, Cares, and Diseases of Newborn Infants
  • Emergency Medical Service for Children, By Ross Lab. May 1989. p.10
  • Emergency care, Harvey Grant and Robert Murray
  • Emergency Care Transportation of Sick and Injured American Academy of Orthopaedic Surgeons
  • Emergency Pediatrics A Guide to Ambulatory Care, Roger M. Barkin, Peter Rosen
  • Quick Reference To Pediatric Emergencies, Delmer J. Pascoe, M.D., Moses Grossman, M.D. with 26 contributors
  • Neonatal resuscitation Ameican academy of pediatrics
  • Pediatric Nutritional Handbook American Academy of Pediatrics
  • Pediatric Resuscitation Pediatric Clinics of North America, Stephen M. Schexnayder, M.D.
  • Pediatric Critical Care, Pediatric Clinics of North America, James P. Orlowski, M.D.
  • Preparation for Birth. Beverly Savage and Dianna Smith
  • Infectious disease of children, Saul Krugman, Samuel L Katz, Ann A.
  • 4권 모유모유수유이유 참조문헌 및 출처
  • 5권 인공영양우유, 이유, 비타민, 단백질지방 탄수 화물 참조문헌 및 출처
  • 6권 신생아 성장발육 양호 질병 참조문헌 및 출처
  • 소아과학 대한교과서

Copyright ⓒ 2015 John Sangwon Lee, MD., FAAP

미국 소아과 전문의한국 소아청소년과 전문의 이상원 저 부모도 반의사가 되어야 한다”-내용은 여러분들의 의사로부터 얻은 정보와 진료를 대신할 수 없습니다.

The information contained in this publication should not be used as a substitute for the medical care and advice of your doctor. There may be variations in treatment that your doctor may recommend based on individual facts and circumstances. “Parental education is the best medicine.”