Hang Yu1, Wenwei Zhao2, Yongqing Ni1, Linlin Li1. 1. Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, 010030, People's Republic of China. 2. Office of the Director, Hohhot People's Mediation Committee for medical Disputes, Hohhot, Inner Mongolia Autonomous Region, 010030, People's Republic of China.
Abstract
Objective: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS). Methods: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome. Results: The patient, female, age 1 month 24 days, with ventricular arrhythmia as the first manifestation, accompanied by growth retardation, liver damage, and persistent decrease in peripheral blood neutrophil count (< 1.5 × 109/l), no pancreatic exocrine gland dysfunction at the initial stage of the disease. Gene detection showed that the SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation. Conclusion: Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment.
Objective: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS). Methods: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome. Results: The patient, female, age 1 month 24 days, with ventricular arrhythmia as the first manifestation, accompanied by growth retardation, liver damage, and persistent decrease in peripheral blood neutrophil count (< 1.5 × 109/l), no pancreatic exocrine gland dysfunction at the initial stage of the disease. Gene detection showed that the SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation. Conclusion: Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment.
Authors: Yigal Dror; Jean Donadieu; Jutta Koglmeier; John Dodge; Sanna Toiviainen-Salo; Outi Makitie; Elizabeth Kerr; Cornelia Zeidler; Akiko Shimamura; Neil Shah; Marco Cipolli; Taco Kuijpers; Peter Durie; Johanna Rommens; Liesbeth Siderius; Johnson M Liu Journal: Ann N Y Acad Sci Date: 2011-12 Impact factor: 5.691
Authors: Kasiani C Myers; Elissa Furutani; Edie Weller; Bradford Siegele; Ashley Galvin; Valerie Arsenault; Blanche P Alter; Farid Boulad; Carlos Bueso-Ramos; Lauri Burroughs; Paul Castillo; James Connelly; Stella M Davies; Courtney D DiNardo; Iftikhar Hanif; Richard H Ho; Nicole Karras; Michelle Manalang; Lisa J McReynolds; Taizo A Nakano; Grzegorz Nalepa; Maxim Norkin; Matthew J Oberley; Etan Orgel; Yves D Pastore; Joseph Rosenthal; Kelly Walkovich; Jordan Larson; Maggie Malsch; M Tarek Elghetany; Mark D Fleming; Akiko Shimamura Journal: Lancet Haematol Date: 2019-12-23 Impact factor: 18.959