Pregled bibliografske jedinice broj: 1111220
Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure
Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure // Molecular Case Studies, 3 (2017), 6; a00214, 10 doi:10.1101/mcs.a002147 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 1111220 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Utility of rapid whole-exome sequencing in the
diagnosis of Niemann–Pick disease type C
presenting with fetal hydrops and acute liver
failure
Autori
Rohanizadegan, Mersedeh ; Abdo, Sara M. ; O'Donnell-Luria, Anne ; Mihalek, Ivana ; Chen, Peggy ; Sanders, Marilyn ; Leeman, Kristen ; Cho, Megan ; Hung, Christina ; Bodamer, Olaf
Izvornik
Molecular Case Studies (2373-2865) 3
(2017), 6;
A00214, 10
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
fatal liver failure in infancy ; fetal ascites ; nonimmune hydrops fetalis
Sažetak
Rapid whole-exome sequencing (rWES) is used in critically ill newborn infants to inform about diagnosis, clinical management, and prognosis. Here we report a male newborn infant with hydrops, pancytopenia, and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure- related morbidity and mortality, and lack of diagnosis, we used rWES in the proband and both parents with a turnaround time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1, suggestive of a diagnosis of Niemann–Pick disease type C (NPC). Interestingly, a diagnosis of NPC was entertained prior to rWES, but deemed unlikely in light of absent cholesterol storage on liver biopsy and near-normal oxysterol levels in dried blood. The diagnosis of NPC was confirmed on filipin stain in fibroblasts demonstrating defective cholesterol trafficking. NPC is a slowly progressive neurodegenerative disorder that may also affect the liver with overall poor prognosis. It was decided to take the infant off the transplant list and transfer to palliative care, where he died after 4 wk. This case highlights the utility of rWES in an acute clinical setting for several domains of precision medicine including (1) diagnosis, (2) prognosis and outcome, (3) management and therapy, and (4) utilization of resources.
Izvorni jezik
Engleski
Znanstvena područja
Biologija, Računarstvo, Interdisciplinarne biotehničke znanosti, Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje)
