Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

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dc.contributor.authorPuri, Ratna Duaen_US
dc.contributor.authorKapoor, Seemaen_US
dc.contributor.authorKishnani, Priya Sen_US
dc.contributor.authorDalal, Ashwinen_US
dc.contributor.authorGupta, Neerjaen_US
dc.contributor.authorMuranjan, Mamtaen_US
dc.contributor.authorPhadke, Shubha Ren_US
dc.contributor.authorSachdeva, Anupamen_US
dc.contributor.authorVerma, Ishwar Cen_US
dc.contributor.authorK, Pramoden_US
dc.date.accessioned2020-04-23T07:42:29Z
dc.date.available2020-04-23T07:42:29Z
dc.date.issued2018-02
dc.description.abstractJustification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinicalmanifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD haspaucity of information and optimal management guidelines for Indian patients.Process: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invitedexperts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed andthe draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016at the annual meeting of the Indian Academy of Medical Genetics.Objectives: These guidelines are intended to serve as a standard framework for treating physicians and the health care systems foroptimal management of Gaucher disease in India and to define unique needs of this patient population.Recommendations: Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequentlyexperience diagnostic delays during which severe irreversible complications occur. Leucocyte acid ?-glucosidase activity ismandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathicdisease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved byearly initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such asseizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein arefor diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrenceof the disease through genetic counseling and prenatal diagnosis is essential in India, due to uniformly severe phenotypes encounteredin our populationen_US
dc.identifier.affiliationsPediatric Hematology Oncology and Bone Marrow Transplantation unit,Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, Maulana Azad Medical College,New Delhi, Indiaen_US
dc.identifier.affiliationsPediatrics Medical Genetics, Duke University Medical Center, USAen_US
dc.identifier.affiliationsDiagnostics Division, Centre for DNAFingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, Indiaen_US
dc.identifier.affiliationsDivision of Genetics, All India Institute of Medical Educationand Research, New Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Clinical Genetics, Seth GS Medical College and KEM Hospital,Mumbai, India;PD Hinduja National Hospital and Medical Research Centre, Mumbai, Indiaen_US
dc.identifier.affiliationsDepartment of Genetic Medicine, Sanjay GandhiPostgraduate Institute, Lucknow, Indiaen_US
dc.identifier.affiliationsPediatric Hematology Oncology and Bone Marrow Transplantation unit,Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, Indiaen_US
dc.identifier.affiliationsMetabolic Liver and Lysosomal Disease Program, Yale University School of Medicine,New Haven, USA.en_US
dc.identifier.citationPuri Ratna Dua , Kapoor Seema , Kishnani Priya S , Dalal Ashwin , Gupta Neerja , Muranjan Mamta , Phadke Shubha R , Sachdeva Anupam , Verma Ishwar C , K Pramod. Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics . Indian Pediatrics. 2018 Feb; 55(2): 143-153en_US
dc.identifier.issn0974-7559
dc.identifier.issn0019-6061
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/199024
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber2en_US
dc.relation.volume55en_US
dc.source.urihttps://www.indianpediatrics.net/feb2018/143.pdfen_US
dc.subjectEnzyme replacement therapyen_US
dc.subjectGenetic counsellingen_US
dc.subjectLysosomal storage disorderen_US
dc.subjectTreatmenten_US
dc.titleDiagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatricsen_US
dc.typeJournal Articleen_US
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