print ISSN: 2411-3956
Screening of the defi ciency of glucose-6-phosphate dehydrogenase of newborn babies
##common.pageHeaderLogo.altText## Actual Questions of Modern Gynecology and Perinatology

Abstract

Deficiency of glucose - 6 - phosphate dehydrogenase (G6PD) - X - linked enzyme defect, which can manifest itself as hemolysis after acute infections or ingestion
oxidants (salicylates and sulfonamides). Diagnosis is based on G6PD levels, although the test often gives a false negative result in the presence of acute hemolysis. Treatment is supportive. Since this pathology is X-linked, the complete clinical picture is observed in men and homozygous women; in heterozygous women, clinical manifestations are variable.

References

CappelliniM., Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 2008; 371: 9606: 64-74

Frank J. Diagnosis and management of G6PD deficiency. Am Fam Physician 2005; 72: 7: 1277-1282.

Mason P., Bautista J., Gilsanz F. G6PD deficiency: the geno-type-phenotype association. Blood Rev 2007; 21: 5: 267-283.

Minucci A., Concolino P., Vendittelli F. et al. Glucose-6-phos-phate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency. Clin Bio-chem 2008; 41: 9: 742-745.

Эфендиев А.М., Мусаев М.А., Аскерова Т.А. Вторичное нарушение активности фермента глюкозо-6-фосфатде-гидрогеназы у больных с первичным метгемоглобином. Аллергол и иммунол 2006; 3: 7: 357. (Efendiyev A.M., Mu-sayev M.A., Askerova T.A. Secondary violation of glucose-6- phosphatdehidrogenase enzyme activity at patients with primary met-hemoglobin. Állergol i immunol2006; 3: 7: 357.)

Гречанина Е.Я. Наследственные нарушения метаболизма. Медицинская газета «Здоров›я Украши»

; 80-84. (Grechanina E.Ya. Hereditary violations of a metabolism. Medical newspaper “Zdorov’ya Украши” 2003; 80-84.)

Müasir ginekologiya və perinatologiyanın aktual msllri 06 02/2019

Мухтаров З.Я. Медико-генетические исследования, регистр наследственных заболеваний и генетический груз популяции Астаринского и Лерикского районов Азербайджанской Республики.Современные достижения медицины и практического здравоохранения в Азербайджане 2002; 1:

-192. (Mukhtarov Z.Ya. Medical-genetic researches, the register of hereditary diseases and genetic freight of population of Astara and Lerik regions of Azerbaijan Republic. Sovremennye dostizheniya meditsiny i praktichesk-ogo zdravookhraneniya v Ázerbajdzhane 2002; 1: 186-192.)

Tikmani S.S., Warraich H.J., Abbasi F. et al. Incidence of neonatal hyperbilirubinemia: a populationbased

prospective study in Pakistan. Trop Med Int Health 2010; 15: 5: 502-507.

Minucci A., Moradkhani K., Hwang M.J. et al. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations. Blood Cells Mol Dis 2012; 48: 154-165.

Beutler E. G6PD deficiency: a historical perspective. Blood 2008; 111: 16-24.

Glucose-6-phosphate dehydrogenase reagent set. Pointe Scientific, Inc., USA 2004.

Тодоров И. Клинические лабораторные исследования в педиатрии, 5-е изд. София 1966; 389.(Todorov I. Clinical laboratory trials in pediatrics, the 5th ed. Sofia 1966; 389.)

Никитин Ю.П., Лисиченко О.В., Коробкова Е.Н. и др. Клинико-генеалогический метод в медицинской генетике. Новосибирск: Наука 1983; 101. (Nikitin Yu.P., Lisi-chenko O.V., Korobkov E.N. et al. The Clinical genealogical method in medical genetics. Novosibirsk: Nauka 1983; 101.)

Goldstein B., Giroir B., Randolph A. International pediatric sepsis consensus conference: definitions for sepsis and organ dysfunction in pediatrics. Pediat Crit Care Med 2005; 6: 1: 2-8.

PureLink Genomic DNA Mini Kit, User Guide, Document Part Number 25-1012.

Al-Ali A.K., Al-Mustafa Z.H., Al-Madan M. et al. Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in the Eastern Province of Saudi Arabia. Clin Chem Lab Med 2002; 40: 814-816.

Al-Musawi B.M., Al-Allawi N., Abdul-Majeed B.A. et al. Molecular characterization of glucose-6-phosphate dehydroge-nase deficient variants in Baghdad city — Iraq. BMC Blood Disord 2012: 12: 4.

PDF
PDF

Keywords

reproductive period, hyperandrogenism, hypothyroidism reproduktiv dövr, hiperandrogeniya, hipotireoz репродуктивный период, гиперандрогения, гипотиреоз