Gregory A Grabowski1. 1. The Children's Hospital Research Foundation, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics of the University of Cincinnati, Cincinnati, Ohio 45229-3039, USA. greg.grabowski@chmcc.org
Abstract
PURPOSE OF REVIEW: Major clinical advances in Gaucher disease focus on detection, prediction and treatment of variant phenotypes. RECENT FINDINGS: The advent of efficacious enzyme therapy has emphasized the importance of early diagnosis and intervention to prevent the morbid manifestations of the disease including organomegaly, growth and pubertal retardation, and osteopenia/osteoporosis. Genotype/phenotype correlations provide some guidance for prognosis by categorical distinctions of nonneuronopathic (type 1) and neuronopathic (types 2 and 3) variants. Early detection of children genetically predisposed to severe disease are a management challenge for the pediatrician and metabolic physician. The development of specific therapeutic goals provides a framework for assessments of visceral therapeutic and palliative responses in children with type 1, and types 2 and 3, respectively. SUMMARY: The pediatrician plays a major role in these clinical and genetically based decisions.
PURPOSE OF REVIEW: Major clinical advances in Gaucher disease focus on detection, prediction and treatment of variant phenotypes. RECENT FINDINGS: The advent of efficacious enzyme therapy has emphasized the importance of early diagnosis and intervention to prevent the morbid manifestations of the disease including organomegaly, growth and pubertal retardation, and osteopenia/osteoporosis. Genotype/phenotype correlations provide some guidance for prognosis by categorical distinctions of nonneuronopathic (type 1) and neuronopathic (types 2 and 3) variants. Early detection of children genetically predisposed to severe disease are a management challenge for the pediatrician and metabolic physician. The development of specific therapeutic goals provides a framework for assessments of visceral therapeutic and palliative responses in children with type 1, and types 2 and 3, respectively. SUMMARY: The pediatrician plays a major role in these clinical and genetically based decisions.
Authors: Edoardo Ferlazzo; Dorothee Kasteleijn-Nolst Trenite; Gerrit-Jan de Haan; Felix Felix Nitschke; Saija Ahonen; Sara Gasparini; Berge A Minassian Journal: Curr Pharm Des Date: 2017 Impact factor: 3.116
Authors: Jérôme Stirnemann; Marie Vigan; Dalil Hamroun; Djazia Heraoui; Linda Rossi-Semerano; Marc G Berger; Christian Rose; Fabrice Camou; Christine de Roux-Serratrice; Bernard Grosbois; Pierre Kaminsky; Alain Robert; Catherine Caillaud; Roselyne Froissart; Thierry Levade; Agathe Masseau; Cyril Mignot; Frédéric Sedel; Dries Dobbelaere; Marie T Vanier; Vassili Valayanopoulos; Olivier Fain; Bruno Fantin; Thierry Billette de Villemeur; France Mentré; Nadia Belmatoug Journal: Orphanet J Rare Dis Date: 2012-10-09 Impact factor: 4.123