Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

被引：85

作者：

Vogel, B. H. ^{[1
]}

Bradley, S. E. ^{[1
]}

Adams, D. J. ^{[2
]}

D'Aco, K. ^{[3
]}

Erbe, R. W. ^{[4
]}

Fong, C. ^{[3
]}

Iglesias, A. ^{[5
]}

Kronn, D. ^{[6
]}

Levy, P. ^{[7
]}

Morrissey, M. ^{[1
]}

Orsini, J. ^{[1
]}

Parton, P. ^{[8
]}

Pellegrino, J. ^{[9
]}

Saavedra-Matiz, C. A. ^{[1
]}

Shur, N. ^{[10
]}

Wasserstein, M. ^{[11
]}

Raymond, G. V. ^{[12
]}

Caggana, M. ^{[1
]}

机构：

[1] New York State Dept Hlth, Wadsworth Ctr, Newborn Screening Program, Albany, NY USA

[2] Gotyeb Pediat Genet & Metab, Jacobs Equity Management Personalized Genom Med P, Morristown, NJ USA

[3] Univ Rochester, Med Ctr, Dept Pediat, Rochester, NY 14642 USA

[4] Women & Childrens Hosp Buffalo, Div Genet, Buffalo, NY USA

[5] New York Presbyterian Morgan Stanley Childrens Ho, New York, NY USA

[6] New York Med Coll, Valhalla, NY 10595 USA

[7] Childrens Hosp Montefiore, Ctr Inherited Med Disorders, Bronx, NY USA

[8] Stony Brook Long Isl Childrens Hosp, Div Genet, Stony Brook, NY USA

[9] State Univ New York Upstate Med Univ, Dept Pediat, Syracuse, NY USA

[10] Albany Med Ctr, Albany, NY USA

[11] Mt Sinai Med Ctr, Div Med Genet, Div Genom Sci, New York, NY 10029 USA

[12] Univ Minnesota, Med Ctr, Dept Neurol, Minneapolis, MN 55455 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2015年 / 114卷 / 04期

关键词：

Adrenoleukodystrophy; Newborn screening; Peroxisomal disorders; Adrenal insufficiency; Genetic counseling; HEMATOPOIETIC-CELL TRANSPLANTATION; TERM-FOLLOW-UP; LORENZOS OIL; ADRENAL INSUFFICIENCY; PREDICTION; DISORDERS; THERAPY; MS/MS; GENE; ALD;

D O I：

10.1016/j.ymgme.2015.02.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Purpose: To describe a diagnostic protocol, surveillance and treatment guidelines, genetic counseling considerations and long-term follow-up data elements developed in preparation for X-linked adrenoleukodystrophy (X-ALD) newborn screening in New York State. Methods: A group including the director from each regional NYS inherited metabolic disorder center, personnel from the NYS Newborn Screening Program, and others prepared a follow-up plan for X-ALD NBS. Over the months preceding the start of screening, a series of conference calls took place to develop and refine a complete newborn screening system from initial positive screen results to long-term follow-up. Results: A diagnostic protocol was developed to determine for each newborn with a positive screen whether the final diagnosis is X-ALD, carrier of X-ALD, Zellweger spectrum disorder, acyl CoA oxidase deficiency or D-bifunctional protein deficiency. For asymptomatic males with X-ALD, surveillance protocols were developed for use at the time of diagnosis, during childhood and during adulthood. Considerations for timing of treatment of adrenal and cerebral disease were developed. Conclusion: Because New York was the first newborn screening laboratory to include X-ALD on its panel, and symptoms may not develop for years, long-term follow-up is needed to evaluate the presented guidelines. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：599 / 603

页数：5

共 31 条

[31] A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population
Tang, Chengfang
Tang, Fang
Cai, Yanna
Tan, Minyi
Liu, Sichi
Xie, Ting
Jiang, Xiang
Huang, Yonglan
CLINICA CHIMICA ACTA, 2024, 552

← 1 2 3 4 →