GAUCHER DISEASE

GAUCHER DISEASE

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INTRODUCTION:-

Most common disorder among the group of lysosomal storage diseases. The deficiency of glucocerebrosidase, a lysosomal hydrolase, leads to accumulation of large quantities of glucocerebroside in the lysosomes of cells of the macrophage lineage. Lipid engorged cells, known as more gauche cells displace healthy normal cells particularly in the bone marrow and visceral organs and induce secondary pathology through largely still unknown Pathways. If left untreated irreversible disability and early mortality are the rule.

It is inherited in an autosomal recessive way. The estimated prevalence of the symptomatic disease is 1 in 100,000.
CLASSIFICATION:
TYPE-1: CHRONIC NON-NEUROPATHIC FORM (ADULT)
                  Low detectable levels of glucocerebrosidase
TYPE-2: ACUTE NEUROPATHIC FORM
                 Complete deficiency of glucocerebrosidase
TYPE-3: JUVENILE OR INTERMEDIATE FORM
Sign/Symptoms are:-
Skeletal – chronic bone pain/acute bone crisis
Bone marrow infiltration, osteopenia, bone remodeling failure, spontaneous bone fracture.
Visceral organs – abdominal pain, early satiety, frequent diarrhea, splenomegaly, and hepatomegaly.
Haematological – anemia, thrombocytopenia, leukopenia, and gammopathy.
Lungs – exertional dyspnea, tachypnea, cough, recurrent respiratory infection, pulmonary hypertension and hepatopulmonary syndrome.
CNS – there are no CNS symptoms in non-neuropathic Gaucher disease, but type 2&3 have symptoms.
Skin – Yellow or brownish discoloration, bruises, and petechiae.
CVS – symptoms resulting from restrictive cardiomyopathy and defective valves.
Eyes – pinguecula, opacities, saccade initiation failure in type 3 disease.
Lymphatic – enlarged lymph nodes
Metabolic – difficulty gaining weight and pubertal delay
Malignancy – increase the risk of neoplastic disease.
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Animesh PI | Proud member of MEDGAG | Author

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