Gaucher disease is an autosomal rec

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid beta-glucosidase (glucocerebrosidase) enzyme activity. Absent or reduced activity of this enzyme results in accumulation of glucocerebroside in the lysosomes and interferes with the normal functioning of cells.



Clinical features and severity of symptoms are widely variable within Gaucher disease, but in general, the disorder is characterized by abnormal blood parameters such as decreased red blood cells (anemia) and/or platelets (thrombocytopenia), bone disease, and hepatosplenomegaly. Individuals with more severe types of Gaucher disease may have central nervous system (CNS) involvement. There are 3 clinical subtypes of the disorder that vary with respect to age of onset and clinical presentation. Type 1 is the most common type, representing 95% of all cases, and is generally characterized by bone disease, hepatosplenomegaly, anemia and thrombocytopenia, coagulation abnormalities, lung disease, and no CNS involvement. Type 2 typically has a very severe progression with onset in the first 2 years of life including neurologic disease, hepatosplenomegaly, and lung disease, with death usually between 2 and 4 years due to lung failure. Individuals with type 3 may have onset prior to 2 years of age, but the progression is not as severe and they may survive into the third and fourth decade. In addition, there is a perinatal lethal form associated with skin abnormalities and nonimmune hydrops fetalis, and a cardiovascular form presenting with calcification of the aortic and mitral valves, mild splenomegaly, and corneal opacities.



Treatment is available in the form of enzyme replacement therapy, substrate reduction therapy, and/or chaperone therapy for types 1 and 3. Individuals with type 3 may benefit from bone marrow transplantation. Currently, only supportive therapy is available for type 2.



The incidence of type 1 ranges from 1 in 20,000 to 200,000 in the general population, but is much more frequent among Ashkenazi Jews with an incidence between 1 in 400 and 900. Types 2 and 3 both have an incidence of approximately 1 in 100,000 in the general population.



A diagnostic workup for Gaucher disease may demonstrate the characteristic finding of "Gaucher cells" on bone marrow examination. Reduced or absent enzyme activity of acid beta-glucosidase is diagnostic. A targeted mutation panel may allow for detection of disease-causing mutations in affected patients (GAUP / Gaucher Disease, Mutation Analysis, GBA). In addition, full sequencing of the GBA gene allows for detection of disease-causing mutations in affected patients in whom a targeted mutation panel identifies only a single mutation (GBAZ / Gaucher Disease, Full Gene Analysis).

Hasil (Bahasa Indonesia) 1:

Gaucher penyakit adalah gangguan autosom resesif lisosomal penyimpanan yang disebabkan oleh dikurangi atau absen aktivitas enzim asam beta-glukosidase (glucocerebrosidase). Absen atau berkurang aktivitas enzim ini menghasilkan akumulasi glucocerebroside di Lisosom dan mengganggu fungsi normal dari sel-sel. Fitur klinis dan keparahan gejala banyak variabel dalam Gaucher penyakit, tetapi secara umum, gangguan dicirikan oleh darah yang abnormal parameter seperti penurunan sel darah merah (kurang darah) dan/atau trombosit (trombositopenia), penyakit tulang, dan hepatosplenomegaly. Individu dengan jenis Gaucher penyakit yang lebih parah mungkin memiliki sistem saraf pusat (SSP) keterlibatan. Ada 3 subtipe klinis dari gangguan yang berbeda terkait dengan usia onset dan presentasi klinis. Tipe 1 adalah jenis yang paling umum, mewakili 95% dari semua kasus, dan umumnya ditandai oleh penyakit tulang, hepatosplenomegaly, anemia dan trombositopenia, kelainan koagulasi, penyakit paru-paru, dan tidak ada keterlibatan CNS. Tipe 2 biasanya memiliki perkembangan yang sangat parah dengan onset dalam 2 tahun pertama kehidupan termasuk penyakit neurologis, hepatosplenomegaly, dan penyakit paru-paru, dengan kematian biasanya antara 2 dan 4 tahun karena kegagalan paru-paru. Individu dengan tipe 3 mungkin memiliki awal sebelum 2 tahun, namun perkembangan ini tidak separah dan mereka mungkin bertahan dalam dekade ketiga dan keempat. Selain itu, ada bentuk mematikan perinatal yang terkait dengan kelainan kulit dan nonimmune hydrops fetalis, dan bentuk kardiovaskular menyajikan dengan kalsifikasi katup aorta dan mitral, ringan splenomegali, dan opacities kornea. Treatment is available in the form of enzyme replacement therapy, substrate reduction therapy, and/or chaperone therapy for types 1 and 3. Individuals with type 3 may benefit from bone marrow transplantation. Currently, only supportive therapy is available for type 2. The incidence of type 1 ranges from 1 in 20,000 to 200,000 in the general population, but is much more frequent among Ashkenazi Jews with an incidence between 1 in 400 and 900. Types 2 and 3 both have an incidence of approximately 1 in 100,000 in the general population. A diagnostic workup for Gaucher disease may demonstrate the characteristic finding of "Gaucher cells" on bone marrow examination. Reduced or absent enzyme activity of acid beta-glucosidase is diagnostic. A targeted mutation panel may allow for detection of disease-causing mutations in affected patients (GAUP / Gaucher Disease, Mutation Analysis, GBA). In addition, full sequencing of the GBA gene allows for detection of disease-causing mutations in affected patients in whom a targeted mutation panel identifies only a single mutation (GBAZ / Gaucher Disease, Full Gene Analysis).