The Many Causes of Severe Congenital Neutropenia  

Oleh:

Dale, David C. ; Link, Daniel C.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 360 no. 01 (Jan. 2009), page 3-5 .
Topik: bone marrow; congenital neutropenia; neutrophils

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2009.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Clinically, examination of the bone marrow is the most important diagnostic test for evaluating severe congenital neutropenia. In children with this disorder, the marrow typically contains an ample number of early myeloid precursors but has a paucity of mature neutrophils. There is also a reduced number of circulating neutrophils. Treatment with granulocyte colony-stimulating factor (G-CSF) has changed the natural history of this disease; more than 90% of patients have a clinically significant increase in the numbers of circulating neutrophils and, with long-term G-CSF treatment, a reduction in the severity and frequency of infection. In this issue of the Journal, Boztug et al. (pages 32–43) report that mutations of the gene for glucose-6-phosphatase, catalytic subunit 3 (G6PC3) are associated with a newly discovered form of severe congenital neutropenia. Homozygous mutations of G6PC3 were identified in five children with the disorder from two consanguineous pedigrees and an additional seven unrelated patients with severe congenital neutropenia. In contrast to those with other forms of the disorder, children with G6PC3 mutations frequently have cardiac abnormalities, thrombocytopenia, and urogenital abnormalities. The mutations of G6PC3 result in a loss of phosphatase activity. G6PC3 catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate, the terminal step of the gluconeogenic and glycogenolytic pathways. Another disorder of glucose metabolism, type Ib glycogen storage disease, caused by mutations of the glucose-6-phosphate transporter 1, is also associated with severe chronic neutropenia.

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