Tachypnea of infancy as the first sign of Sanfilippo syndrome

Pediatrics

Volumn 134, Issue 3, 2014, Pages e884-e888

  Chiang, Jackie ^a,b   Raiman, Julian ^a,b   Cutz, Ernest ^a,c   Solomon, Melinda ^a,b   Dell, Sharon ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Infant; Mucopolysaccharidosis III; Pathology; Tachypnea

Indexed keywords

LUNG SURFACTANT;

ABCA3 GENE; ARTERIAL GAS; ARTICLE; ASSISTED VENTILATION; BIRTH WEIGHT; BLOOD GAS ANALYSIS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ECHOCARDIOGRAPHY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; LUNG BIOPSY; LUNG EMPHYSEMA; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PATENT FORAMEN OVALE; POSITIVE END EXPIRATORY PRESSURE; SANFILIPPO SYNDROME; SEQUENCE ANALYSIS; SGSH GENE; SYMPTOM ASSESSMENT; TACHYPNEA; THIN LAYER CHROMATOGRAPHY; THORAX RADIOGRAPHY; INFANT; PATHOLOGY; PRESCHOOL CHILD;

INFANT; MUCOPOLYSACCHARIDOSIS III; PATHOLOGY; TACHYPNEA;

CHILD, PRESCHOOL; HUMANS; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS III; TACHYPNEA;

EID: 84907205647     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-2765     Document Type: Article

References (15)

1. Muhlebach MS, Wooten W, Muenzer J. Respiratory manifestations in mucopolysaccharidoses. Paediatr Respir Rev. 2011;12(2): 133-138
2. Cutz E, Chaisson D. Chronic lung disease after premature birth [Letter to the Editor]. N Engl J Med. 2008(7);358:743-745
3. Valstar MJ, Neijs S, Bruggenwirth HT, et al. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol. 2010;68(6): 876-887
4. Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008;31(2): 240-252
5. Meyer A, Kossow K, Gal A, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics. 2007;120(5). Available at: www.pediatrics.org/cgi/content/full/120/5/e1255
6. Semenza GL, Pyeritz RE. Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore). 1988;67 (4): 209-219
7. Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med. 2005;172(8): 1026-1031
8. Nogee LM. Genetics of pediatric interstitial lung disease. Curr Opin Pediatr. 2006;18(3): 287-292
9. Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12(4): 253-274
10. Bullard JE, Nogee LM. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res. 2007;62(2): 176-179
11. Wambach JA, Wegner DJ, Depass K, et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130(6). Available at: www.pediatrics.org/cgi/content/full/130/6/e1575
12. Safety, tolerability, ascending dose and dose frequency study of rhHNS via an IDDD in MPS IIIA patients. ClinicalTrials.gov. Available at: http://clinicaltrials.gov/ct2/show/NCT01155778?term=MPS+IIIA&rank=1. Accessed May 28, 2013
13. de Ruijter J, Valstar MJ, Wijburg FA. Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies. Curr Pharm Biotechnol. 2011;12(6): 923-930
14. Kurland G, Deterding RR, Hagood JS, et al. An Official American Thoracic Society Clinical Practice Guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med. 2013;188(3): 375-394
15. Langston C, Patterson K, Dishop MK, et al chILD Pathology Co-operative Group. A protocol for the handling of tissue obtained by operative lung biopsy: recommendations of the chILD Pathology Co-operative Group. Pediatr Dev Pathol. 2006;9(3): 173-180