11 May 2020

Hurler’s Syndrome, 헐러 증후군

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Hurler’s Syndrome, 헐러 증후군

다른 병명 other disease name

원인 cause

특이 증상, 징후 specific symptoms and signs

그 외 증상, 징후 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 얼굴, 뻣뻣한 관절, 정신박약, 각막 혼탁. Rough face, stiff joints, mental weakness, corneal opacity

성장 장애, 심한 정신박약, 주상두두개골 종대, 큰 입술, 저 비교, 벌렁코, 양안 먼 거리증, 망막 색소 침착증, 비대된 치조 융선, 큰 혀, 치아교열 이상, 관절 운동 제한, 관절 이상, 갈퀴손, 늑골 벌어짐, 척주 후만증, 심장 부전증, 간 비장 비대증, 다모증, 서혜부 헤르니아, 고관절 탈구, 농아, 비염, Dermatan sulfate와 heparan sulfate가 소변에 분비, 뇌 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.

병력, 증상, 검진 등. Medical history, symptoms, examination, etc.

대증치료

symptomatic treatment

처음에는 성장 과다 그 후 심한 성장 중지, 소아기에 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.,

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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; ClinicalTrials.gov number, NCT03488394. opens in new tab; EudraCT number, 2017-002430-23. opens in new tab.)

출처 및 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
  • www.drleepediatrics.com 제1권 소아청소년 응급 의료
  • www.drleepediatrics.com 제2권 소아청소년 예방
  • www.drleepediatrics.com 제3권 소아청소년 성장 발육 육아
  • www.drleepediatrics.com 제4권 모유,모유수유, 이유
  • www.drleepediatrics.com 제5권 인공영양, 우유, 이유식, 비타민, 미네랄, 단백질, 탄수화물, 지방
  • www.drleepediatrics.com 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
  • www.drleepediatrics.com 제20권 소아청소년 이 (치아)질환
  • www.drleepediatrics.com 제21권 소아청소년 가정 학교 간호
  • www.drleepediatrics.com 제22권 아들 딸 이렇게 사랑해 키우세요
  • www.drleepediatrics.com 제23권 사춘기 아이들의 성장 발육 질병
  • www.drleepediatrics.com 제24권 소아청소년 성교육
  • www.drleepediatrics.com 제25권 임신, 분만, 출산, 신생아 돌보기
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  • Nelson Text Book of Pediatrics 19th- 21st Edition
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  • Pediatric Nutritional Handbook American Academy of Pediatrics
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  • Neonatology Jeffrey J. Pomerance, C. Joan Richardson
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  • 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.
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  • 제4권 모유, 모유수유, 이유 참조문헌 및 출처
  • 제5권 인공영양, 우유, 이유, 비타민, 단백질, 지방 탄수 화물 참조문헌 및 출처
  • 제6권 신생아 성장발육 양호 질병 참조문헌 및 출처
  • 소아과학 대한교과서

Copyright ⓒ 2015 John Sangwon Lee, MD., FAAP

미국 소아과 전문의, 한국 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.”