Diagnosis and management of Silver-Russell syndrome: first international consensus statement

被引：341

作者：

Wakeling, Emma L. ^{[1
]}

Brioude, Frederic ^{[2
,3
,4
]}

Lokulo-Sodipe, Oluwakemi ^{[5
,6
]}

O'Connell, Susan M. ^{[7
]}

Salem, Jennifer ^{[8
]}

Bliek, Jet ^{[9
]}

Canton, Ana P. M. ^{[10
]}

Chrzanowska, Krystyna H. ^{[11
]}

Davies, Justin H. ^{[12
]}

Dias, Renuka P. ^{[13
,14
,15
]}

Dubern, Beatrice ^{[16
,17
]}

Elbracht, Miriam ^{[18
]}

Giabicani, Eloise ^{[2
,3
,4
]}

Grimberg, Adda ^{[19
]}

Gronskov, Karen ^{[20
]}

Hokken-Koelega, Anita C. S. ^{[21
]}

Jorge, Alexander A. ^{[10
]}

Kagami, Masayo ^{[22
]}

Linglart, Agnes ^{[23
]}

Maghnie, Mohamad ^{[24
]}

Mohnike, Klaus ^{[25
]}

Monk, David ^{[26
]}

Moore, Gudrun E. ^{[27
]}

Murray, Philip G. ^{[28
]}

Ogata, Tsutomu ^{[29
]}

Petit, Isabelle Oliver ^{[30
]}

Russo, Silvia ^{[31
]}

Said, Edith ^{[32
,33
]}

Toumba, Meropi ^{[34
,35
]}

Tumer, Zeynep ^{[20
]}

Binder, Gerhard ^{[36
]}

Eggermann, Thomas ^{[18
]}

Harbison, Madeleine D. ^{[37
]}

Temple, I. Karen ^{[5
,6
]}

Mackay, Deborah J. G. ^{[5
]}

Netchine, Irene ^{[2
,3
,4
]}

机构：

[1] London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, England

[2] Hop Enfants Armand Trousseau, AP HP, Hop Univ Paris Est, Serv Explorat Fonct Endocriniennes, 26 Ave Dr Arnold Netter, F-75012 Paris, France

[3] INSERM, UMR S938, Ctr Rech St Antoine, 34 Rue Crozatier, F-75012 Paris, France

[4] UPMC Univ Paris 06, Sorbonne Univ, 4 Pl Jussieu, F-75005 Paris, France

[5] Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO17 1BJ, Hants, England

[6] Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 6YD, Hants, England

[7] Cork Univ Hosp, Dept Paediat & Child Hlth, Cork T12 DC4A, Cork, Ireland

[8] MAGIC Fdn, 6645 W North Ave, Oak Pk, IL 60302 USA

[9] Acad Med Ctr, Dept Clin Genet, Lab Genome Diagnost, Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands

[10] Univ Sao Paulo, Fac Med, Lab Endocrinol Celular & Mol LIM 25, Unidade Endocrinol Genet,Disciplina Endocrinol, Av Dr Arnaldo,455 5 Andar Sala 5340 LIM25, BR-01246000 Sao Paulo, SP, Brazil

[11] Childrens Mem Hlth Inst, Dept Med Genet, Al Dzieci Polsk 20, PL-04730 Warsaw, Poland

[12] Southampton Univ Hosp, Dept Paediat Endocrinol, Tremona Rd, Southampton SO16 6YD, Hants, England

[13] Univ Birmingham, Inst Metab & Syst Res, Vincent Dr, Birmingham B15 2TT, W Midlands, England

[14] Birmingham Hlth Partners, Ctr Endocrinol Diabet & Metab, Vincent Dr, Birmingham B15 2TH, W Midlands, England

[15] Birmingham Childrens Hosp NHS Fdn Trust, Dept Paediat Endocrinol & Diabet, Steelhouse Lane, Birmingham B4 6NH, W Midlands, England

[16] Hop Enfants Armand Trousseau, Hop Univ Paris Est, AP HP, Dept Gastroenterol & Nutr, 26 Ave Dr Arnold Netter, F-75012 Paris, France

[17] UPMC, Trousseau Hosp, AP HP, HUEP, F-75012 Paris, France

[18] Rhein Westfal TH Aachen, Insitute Human Genet, Pauwelsstr 30, D-52074 Aachen, Germany

[19] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, 3401 Civ Ctr Blvd,Suite 11NW30, Philadelphia, PA 19104 USA

[20] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Appl Human Mol Genet,Kennedy Ctr, Gl Landevej 7, DK-2600 Copenhagen, Denmark

[21] Erasmus Univ, Med Ctr, Pediat, Subdiv Endocrinol, Wytemaweg 80, NL-3015 CN Rotterdam, Netherlands

[22] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Setagaya Ku, 2-10-1 Ohkura, Tokyo 1578535, Japan

[23] Hosp Bicetre Paris Sud, AP HP, Dept Pediat Endocrinol, Reference Ctr Rare Disorders Mineral Metab & Plat, 78 Rue Gen Leclerc, F-94270 Le Kremlin Bicetre, France

[24] Univ Genoa, IRCCS Ist Giannina Gaslini, Via Gerolamo Gaslini 5, I-16147 Genoa, Italy

[25] Otto von Guericke Univ, Dept Pediat, Leipziger St 44, D-39120 Magdeburg, Germany

[26] Hosp Duran & Reynals, Bellvitge Biomed Res Inst, Canc Epigenet & Biol Program, Imprinting & Canc Grp, Gran Via 199-203, Barcelona 08908, Spain

[27] UCL, Inst Child Hlth, Fetal Growth & Dev Grp, 30 Guilford St, London WC1N 1EH, England

[28] Royal Manchester Childrens Hosp, Inst Human Dev, Ctr Paediat & Child Hlth, Oxford Rd, Manchester M13 9WL, Lancs, England

[29] Hamamatsu Univ Sch Med, Dept Pediat, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan

[30] Childrens Hosp, Bone Dis & Gynecol Unit, Pediat Endocrinol, TSA 70034, F-31059 Toulouse, France

[31] Inst Auxol Italiano, Cytogenet & Mol Genet Lab, Via Ariosto 13, I-20145 Milan, Italy

[32] Univ Malta, Fac Med & Surg, Ctr Mol Med & Biobanking, Dept Anat & Cell Biol, MSD-2090 Msida, Malta

[33] Mater Dei Hosp, Dept Pathol, Med Genet Sect, MSD-2090 Msida, Malta

[34] IASIS Hosp, 8 Voriou Ipirou, CY-8036 Paphos, Cyprus

[35] Cyprus Inst Neurol & Genet, Nicosia, Cyprus

[36] Univ Childrens Hosp, Pediat Endocrinol, Hoppe Seyler Str 1, D-72070 Tubingen, Germany

[37] Mt Sinai Sch Med, 5 98th St 1192, New York, NY 10029 USA

来源：

NATURE REVIEWS ENDOCRINOLOGY | 2017年 / 13卷 / 02期

基金：

美国国家卫生研究院;

关键词：

FOR-GESTATIONAL-AGE; CHILDREN BORN SMALL; GROWTH-HORMONE TREATMENT; MATERNAL UNIPARENTAL DISOMY; METHYLATION ANALYSIS REVEALS; RANDOMIZED CONTROLLED-TRIAL; IMPRINTING CENTER REGION; CLINICAL SCORING SYSTEM; PRADER-WILLI-SYNDROME; CATCH-UP GROWTH;

D O I：

10.1038/nrendo.2016.138

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.

引用

页码：105 / 124

页数：20

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