Simon A Jones1, Vassili Valayannopoulos2, Eugene Schneider3, Stephen Eckert3, Maryam Banikazemi4, Martin Bialer5, Stephen Cederbaum6, Alicia Chan7, Anil Dhawan8, Maja Di Rocco9, Jennifer Domm10, Gregory M Enns11, David Finegold12, J Jay Gargus13, Ornella Guardamagna14, Christian Hendriksz15, Iman G Mahmoud16, Julian Raiman17, Laila A Selim16, Chester B Whitley18, Osama Zaki19, Anthony G Quinn3. 1. Manchester Centre for Genomic Medicine, St. Mary's Hospital, CMFT, University of Manchester, Manchester, UK. 2. Hôpital Necker-Enfants Malades, Paris, France. 3. Synageva BioPharma Corp., Lexington, Massachusetts, USA. 4. New York-Presbyterian Hospital, New York, New York, USA. 5. North Shore LIG Health System, Manhasset, New York, USA. 6. University of California-Los Angeles, Los Angeles, California, USA. 7. University of Alberta, Edmonton, Alberta, Canada. 8. King's College Hospital NHS Foundation Trust, London, UK. 9. Istituto Giannina Gaslini-Ospedale Pediatrico, Genoa, Italy. 10. Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA. 11. Stanford University School of Medicine, Stanford, California, USA. 12. Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA. 13. UC Irvine Medical Center, Orange, California, USA. 14. University of Turin, Turin, Italy. 15. Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK. 16. Cairo University Children's Hospital, Cairo, Egypt. 17. Hospital for Sick Children, Toronto, Ontario, Canada. 18. University of Minnesota, Minneapolis, Minnesota, USA. 19. Ain Shams University Hospital, Cairo, Egypt.
Abstract
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.Genet Med 18 5, 452-458.
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.Genet Med 18 5, 452-458.
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