The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance

被引：33

作者：

Cassio, A. ^{[1
]}

Corbetta, C. ^{[2
]}

Antonozzi, I. ^{[3
]}

Calaciura, F. ^{[4
]}

Caruso, U. ^{[5
]}

Cesaretti, G. ^{[6
]}

Gastaldi, R. ^{[7
]}

Medda, E. ^{[8
]}

Mosca, F. ^{[9
]}

Pasquini, E. ^{[10
]}

Salerno, M. C. ^{[11
]}

Stoppioni, V. ^{[12
]}

Tonacchera, M. ^{[13
]}

Weber, G. ^{[14
]}

Olivieri, A. ^{[15
]}

机构：

[1] Univ Bologna, Dept Pediat, Bologna, Italy

[2] V Buzzi Children Hosp, Reg Screening Ctr Lombardia Reg, Milan, Italy

[3] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[4] Univ Catania, Dept Endocrinol, I-95124 Catania, Italy

[5] G Gaslini Inst Children, Dept Pediat Sci Giovanni de Toni, Genoa, Italy

[6] Univ Pisa, Dept Pediat, Pisa, Italy

[7] G Gaslini Inst Children, Pediat Clin, Genoa, Italy

[8] Italian Natl Inst Hlth, Natl Ctr Epidemiol Surveillance & Hlth Promot, Rome, Italy

[9] Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Clin Sci & Community Hlth, NICU, Milan, Italy

[10] Meyer Children Hosp, Clin Pediat Neurol, Florence, Italy

[11] Univ Naples Federico II, Dept Pediat, Naples, FL USA

[12] S Croce Hosp, Dept Pediat Neuropsychiat, Fano, Italy

[13] Univ Pisa, Dept Endocrinol & Metab, Pisa, Italy

[14] Univ Vita Salute San Raffaele, Dept Pediat, San Raffaele Sci Inst, Milan, Italy

[15] Italian Natl Inst Hlth, Dept Cell Biol & Neurosci, Rome, Italy

来源：

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | 2013年 / 36卷 / 03期

关键词：

Congenital hypothyroidism; neonatal screening; diagnosis; follow-up; surveillance; L-THYROXINE TREATMENT; YOUNG-ADULTS; THYROID-HORMONE; INFANTS; CHILDREN; BIRTH; MATURATION; PHENOMICS; GENETICS; GROWTH;

D O I：

10.3275/8849

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The aim of the Italian screening program for CH is to identify not only babies with severe permanent CH (core target), but also babies with mild persistent and transient forms of CH who could have a benefit from an early replacement therapy (secondary target). In the last years, despite the important results obtained in terms of standardization of screening and follow-up procedures, it has become clear the need of optimizing the program in order to harmonize the screening strategy and the screening procedures among Regions, and to improve the diagnostic and therapeutic approach in all affected infants. On the basis of available guidelines, the experience of the Italian screening and clinical reference centers, and the knowledge derived from the nation-wide surveillance activity performed by the Italian National Registry of Infants with CH, the Italian Society for Pediatric Endocrinology and Diabetology together with the Italian Society for the Study of Metabolic Diseases and Neonatal Screening and the Italian National Institute of Health promoted actions aimed at improving diagnosis, treatment, follow-up and surveillance of CH in our country. In this paper the most important actions to improve the Italian screening program for CH are described. (C) 2013, Editrice Kurtis

引用

页码：195 / 203

页数：9

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