[Congenital neutropenia type IV: case report].

Autor:	Peruffo MV; Servicio de Terapia intermedia. Hospital Sor María Ludovica, La Plata, Argentina. mperuffo2304@yahoo.com.ar., Nainsztein G; Servicio de Terapia intermedia. Hospital Sor María Ludovica, La Plata, Argentina., Salvaneschi Quiña V; Servicio de Terapia intermedia. Hospital Sor María Ludovica, La Plata, Argentina., Samaruga C; Servicio de Terapia intermedia. Hospital Sor María Ludovica, La Plata, Argentina., Cuello MF; Servicio de Hematología. Hospital Sor María Ludovica, La Plata, Argentina., Romano S; Servicio de Hematología. Hospital Sor María Ludovica, La Plata, Argentina., Caferri H; Servicio de Hematología. Hospital Interzonal Dr. José Penna, Bahía Blanca, Argentina.
Jazyk:	Spanish; Castilian
Zdroj:	Archivos argentinos de pediatria [Arch Argent Pediatr] 2022 Oct; Vol. 120 (5), pp. e213-e217. Date of Electronic Publication: 2022 Aug 30.
DOI:	10.5546/aap.2022.e213
Abstrakt:	Severe congenital neutropenia (SCN) is a heterogeneous disease whose more common feature is an absolute neutrophil count less than 0.5 x 109/l. It presents great genetic heterogeneity. Autosomal dominant inherited mutations of the elastase 2 gene (ELA2) represent the most common etiology. The first choice treatment is the administration of granulocyte colony stimulating factor. Patients with SCN develop severe infections early in life. We present a patient who associated SCN to a peculiar phenotype, characterized by triangular facies, retromicrognathia, prominent venous pattern in the lower limbs, atrial septal defect and poor weight progress, in whom a deficiency of the enzyme glucose 6 phosphate dehydrogenase, Neutropenia congénita de tipo IV: reporte de un caso Congenital neutropenia type IV: case report a catalytic subunit 3 (G6PC3), was diagnosed. Despite the infrequency of this mutation as the origin of SCN (2%), its knowledge becomes important because the coexistence of the characteristic phenotype and SCN guides the request for the genetic study that allows reaching the diagnosis. Competing Interests: None. (Sociedad Argentina de Pediatría.)
Databáze:	MEDLINE
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