TY - JOUR
T1 - Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
AU - Jones, Simon A.
AU - Valayannopoulos, Vassili
AU - Schneider, Eugene
AU - Eckert, Stephen
AU - Banikazemi, Maryam
AU - Bialer, Martin
AU - Cederbaum, Stephen
AU - Chan, Alicia
AU - Dhawan, Anil
AU - Di Rocco, Maja
AU - Domm, Jennifer
AU - Enns, Gregory M.
AU - Finegold, David
AU - Jay Gargus, J.
AU - Guardamagna, Ornella
AU - Hendriksz, Christian
AU - Mahmoud, Iman G.
AU - Raiman, Julian
AU - Selim, Laila A.
AU - Whitley, Chester B.
AU - Zaki, Osama
AU - Quinn, Anthony G.
N1 - Publisher Copyright:
© American College of Medical Genetics and Genomics.
PY - 2016/5/1
Y1 - 2016/5/1
N2 - Purpose:The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.Methods:Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.Results:Records for 35 patients, 26 with early GF, were analyzed. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% confidence interval (CI): 0.009-0.220). Among patients with early GF, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI: 0.000-0.112). Treated patients (hematopoietic stem cell transplant (HSCT), n = 9; HSCT and liver transplant, n = 1) in the overall population and the early GF subset survived longer than untreated patients, but survival was still poor (median age at death, 8.6 months).Conclusions:These data confirm and expand earlier insights on the progression and course of LALD presenting in infancy. Despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.
AB - Purpose:The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.Methods:Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.Results:Records for 35 patients, 26 with early GF, were analyzed. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% confidence interval (CI): 0.009-0.220). Among patients with early GF, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI: 0.000-0.112). Treated patients (hematopoietic stem cell transplant (HSCT), n = 9; HSCT and liver transplant, n = 1) in the overall population and the early GF subset survived longer than untreated patients, but survival was still poor (median age at death, 8.6 months).Conclusions:These data confirm and expand earlier insights on the progression and course of LALD presenting in infancy. Despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.
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U2 - 10.1038/gim.2015.108
DO - 10.1038/gim.2015.108
M3 - Article
C2 - 26312827
AN - SCOPUS:84964914026
SN - 1098-3600
VL - 18
SP - 452
EP - 458
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 5
ER -