Gaucher’s Disease: Prenatal and Post Natal Diagnostic Dilemma and Elucidating Case Series | Chapter 11 | New Insights into Disease and Pathogen Research Vol. 2
Gaucher’s Disease (GD) is a rare
genetically inherited, autosomal recessive disorder. It is classified as a
lysosomal storage disorder and is characterized by the accumulation of
glycolipids. This is due to the deficiency of lysosomal hydrolase β –
glucocerebrosidase. The gene responsible for synthesizing this enzyme is
encoded by GBA1 on chromosome 1q21. The 3 clinical subtypes vary widely in
their presentation. Moreover the presentation is not specific and mimics
several other common and rare conditions. Having a child with GD poses severe
psychological burden on the affected child and its family due to the associated
morbidity and mortality. Appropriate prenatal diagnostic tests can provide
sufficient information to prospective parents to take informed decisions. Case
series and Literature Review is presented together with an objective to emphasize
that a rare disease like GD can have bad prognosis and that prenatal
diagnostics can help in the diagnosis of the disease during intrauterine life,
to facilitate making a timely decision. It also highlights the importance of
genetic counseling to avoid dismal outcomes. The case series also throw light
on the challenges that GD presents in post natal life.
Author(s) Details
Dr. Mohammed Ismail Khan
Department of Obstetrics and
Gynaecology (Academic), ESIC Medical College and Hospital, Sanathnagar, Hyderabad,
India.
Dr. Swathi Emmadisetty
Department of Obstetrics and
Gynaecology, ESIC Medical College and Hospital, Sanathnagar, Hyderabad, India.
Dr. Asna Yasmeen
Mesco College of Pharmacy,
Mustaidpura, Hyderabad, India.
Dr. Shahzeb Zaman
Department of
Anaesthesiology, Shadan Institute of Medical Sciences, Peerancheru, Hyderabad,
India.
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