Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome)
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Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome) : data from the Hunter Outcome Survey. / Mendelsohn, Nancy J; Harmatz, Paul; Bodamer, Olaf; Burton, Barbara K; Giugliani, Roberto; Jones, Simon A; Lampe, Christina; Malm, Gunilla; Steiner, Robert D; Parini, Rossella; Hunter Outcome Survey Investigators ; Muschol, Nicole Maria.
In: GENET MED, Vol. 12, No. 12, 01.12.2010, p. 816-22.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome)
T2 - data from the Hunter Outcome Survey
AU - Mendelsohn, Nancy J
AU - Harmatz, Paul
AU - Bodamer, Olaf
AU - Burton, Barbara K
AU - Giugliani, Roberto
AU - Jones, Simon A
AU - Lampe, Christina
AU - Malm, Gunilla
AU - Steiner, Robert D
AU - Parini, Rossella
AU - Hunter Outcome Survey Investigators
AU - Muschol, Nicole Maria
PY - 2010/12/1
Y1 - 2010/12/1
N2 - PURPOSE: To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the disease.METHODS: Data on surgical interventions from the Hunter Outcome Survey--a multinational, observational database of patients with mucopolysaccharidosis type II-were analyzed. The study population comprised 527 patients for whom surgical data were reported on/before July 23, 2009.RESULTS: Surgical interventions were performed in 83.7% of the study population. Patients underwent their first operation at a median age of 2.6 years. Tympanostomies, repairs of inguinal hernias, and operations for carpal tunnel syndrome were performed in a greater proportion of the study population than the general population. A median of 3.0 operations was performed per patient; repeat operations for hernia or carpal tunnel syndrome were common. The majority of patients (221/389) underwent at least one surgical intervention before diagnosis of mucopolysaccharidosis type II.CONCLUSION: Patients with mucopolysaccharidosis type II typically undergo surgical intervention at a young age, often before diagnosis. Repeated early surgical interventions, particularly for hernias or carpal tunnel syndrome, are characteristic of patients with mucopolysaccharidosis type II. We recommend that such patients are carefully examined for manifestations of mucopolysaccharidosis disorders and referred for diagnostic testing.
AB - PURPOSE: To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the disease.METHODS: Data on surgical interventions from the Hunter Outcome Survey--a multinational, observational database of patients with mucopolysaccharidosis type II-were analyzed. The study population comprised 527 patients for whom surgical data were reported on/before July 23, 2009.RESULTS: Surgical interventions were performed in 83.7% of the study population. Patients underwent their first operation at a median age of 2.6 years. Tympanostomies, repairs of inguinal hernias, and operations for carpal tunnel syndrome were performed in a greater proportion of the study population than the general population. A median of 3.0 operations was performed per patient; repeat operations for hernia or carpal tunnel syndrome were common. The majority of patients (221/389) underwent at least one surgical intervention before diagnosis of mucopolysaccharidosis type II.CONCLUSION: Patients with mucopolysaccharidosis type II typically undergo surgical intervention at a young age, often before diagnosis. Repeated early surgical interventions, particularly for hernias or carpal tunnel syndrome, are characteristic of patients with mucopolysaccharidosis type II. We recommend that such patients are carefully examined for manifestations of mucopolysaccharidosis disorders and referred for diagnostic testing.
KW - Adolescent
KW - Age Distribution
KW - Child
KW - Child, Preschool
KW - Data Collection
KW - Humans
KW - Infant
KW - Male
KW - Mucopolysaccharidosis II
KW - Surgical Procedures, Operative
KW - Treatment Outcome
KW - Young Adult
U2 - 10.1097/GIM.0b013e3181f6e74d
DO - 10.1097/GIM.0b013e3181f6e74d
M3 - SCORING: Journal article
C2 - 21045710
VL - 12
SP - 816
EP - 822
JO - GENET MED
JF - GENET MED
SN - 1098-3600
IS - 12
ER -