Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

被引：47

作者：

Mantovani, Giovanna ^{[1
]}

Bastepe, Murat ^{[2
,3
]}

Monk, David ^{[4
]}

De Sanctis, Luisa ^{[5
]}

Thiele, Susanne ^{[6
]}

Ahmed, S. Faisal ^{[7
]}

Bufo, Roberto ^{[8
]}

Choplin, Timothee ^{[9
]}

De Filippo, Gianpaolo ^{[10
]}

Devernois, Guillemette ^{[9
]}

Eggermann, Thomas ^{[11
]}

Elli, Francesca M. ^{[1
]}

Garcia Ramirez, Aurora ^{[12
]}

Germain-Lee, Emily L. ^{[13
,14
,15
]}

Groussin, Lionel ^{[16
,17
]}

Hamdy, Neveen A. T. ^{[18
,19
]}

Hanna, Patrick ^{[20
]}

Hiort, Olaf ^{[6
]}

Jueppner, Harald ^{[2
,3
]}

Kamenicky, Peter ^{[20
,21
,22
]}

Knight, Nina ^{[23
]}

Le Norcy, Elvire ^{[17
,24
]}

Lecumberri, Beatriz ^{[25
,26
,27
]}

Levine, Michael A. ^{[28
,29
,30
]}

Maekitie, Outi ^{[31
,32
]}

Martin, Regina ^{[33
]}

Martos-Moreno, Gabriel Angel ^{[34
,35
,36
]}

Minagawa, Manasori ^{[37
]}

Murray, Philip ^{[38
]}

Pereda, Arrate ^{[39
]}

Pignolo, Robert ^{[40
]}

Rejnmark, Lars ^{[41
]}

Rodado, Rebeca ^{[12
]}

Rothenbuhler, Anya ^{[21
,42
]}

Saraff, Vrinda ^{[43
]}

Shoemaker, Ashley H. ^{[44
]}

Shore, Eileen M. ^{[45
,46
]}

Silve, Caroline ^{[47
]}

Turan, Serap ^{[48
]}

Woods, Philip ^{[23
]}

Zillikens, M. Carola ^{[49
]}

Perez de Nanclares, Guiomar ^{[39
]}

Linglart, Agnes ^{[21
]}

机构：

[1] Univ Milan, Dept Clin Sci & Community Hlth, Endocrinol Unit, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Milan, Italy

[2] Massachusetts Gen Hosp, Dept Med, Endocrine Unit, Boston, MA 02114 USA

[3] Harvard Med Sch, Boston, MA 02115 USA

[4] Univ East Anglia, Biomed Res Ctr, Norwich Res Pk, Norwich, Norfolk, England

[5] Univ Torino, Dept Publ Hlth & Pediat Sci, Pediat Endocrinol Unit, Turin, Italy

[6] Univ Lubeck, Div Pediat Endocrinol & Diabet, Dept Pediat, Lubeck, Germany

[7] Univ Glasgow, Sch Med Dent & Nursing, Dev Endocrinol Res Grp, Glasgow, Lanark, Scotland

[8] Italian Progress Osseous Heteroplasia Assoc IPOHA, Foggia, Italy

[9] French PHP & Related Disorders Patient Assoc, K20, Jouars Pontchartrain, France

[10] Bicetre Paris Saclay Hosp HUPS, APHP, Dept Med Adolescents, Le Kremlin Bicetre, France

[11] Rhein Westfal TH Aachen, Inst Human Genet, Med Fac, Aachen, Germany

[12] Spanish PHP & Related Disorders Patient Assoc, AEPHP, Almeria, Spain

[13] Connecticut Childrens Med Ctr, Div Pediat Endocrinol & Diabet, Albright Ctr, Farmington, CT USA

[14] Connecticut Childrens Med Ctr, Div Pediat Endocrinol & Diabet, Ctr Rare Bone Disorders, Farmington, CT USA

[15] Univ Connecticut, Sch Med, Dept Pediat, Farmington, CT 06032 USA

[16] Cochin Hosp HUPC, APHP, Dept Endocrinol, Paris, France

[17] Univ Paris 05, Sorbonne Paris Cite, Paris, France

[18] Leiden Univ, Div Endocrinol, Dept Med, Med Ctr, Leiden, Netherlands

[19] Leiden Univ, Ctr Bone Qual, Dept Med, Med Ctr, Leiden, Netherlands

[20] Bicetre Paris Sud Paris Saclay Univ, INSERM, U1185, Le Kremlin Bicetre, France

[21] Bicetre Paris Saclay Hosp HUPS, APHP, Reference Ctr Rare Disorders Calcium & Phosphate, Platform Expertise Paris Saclay Rare Dis & Filier, Le Kremlin Bicetre, France

[22] Bicetre Paris Saclay Hosp HUPS, APHP, Dept Endocrinol & Reprod Dis, Le Kremlin Bicetre, France

[23] Acrodysostosis Support & Res Patients Grp, London, England

[24] Bretonneau Hosp PNVS, APHP, Dept Odontol, Paris, France

[25] La Paz Univ Hosp, Dept Endocrinol & Nutr, Madrid, Spain

[26] Autonomous Univ Madrid UAM, Dept Med, Madrid, Spain

[27] Hosp La Paz, Inst Hlth Res IdiPAZ, Madrid, Spain

[28] Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA

[29] Childrens Hosp Philadelphia, Ctr Bone Hlth, Philadelphia, PA 19104 USA

[30] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

[31] Univ Helsinki, Childrens Hosp, Helsinki, Finland

[32] Helsinki Univ Hosp, Helsinki, Finland

[33] Univ Sao Paulo, Osteometabol Disorders Unit, Hormone & Mol Genet Lab LIM 42, Hosp Clin HCFMUSP,Endocrinol Div,Fac Med, Sao Paulo, Brazil

[34] Univ Nino Jesus, Hosp La Princesa, Dept Endocrinol, Hosp Infantil,Inst Hlth Res IIS La Princesa, Madrid, Spain

[35] Autonomous Univ Madrid UAM, Dept Pediat, Madrid, Spain

[36] Inst Salud Carlos III, CIBERobn, Madrid, Spain

[37] Chiba Childrens Hosp, Div Endocrinol, Chiba, Japan

[38] Manchester Univ NHS Fdn Trust, Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchester, Lancs, England

[39] Araba Univ Hosp Txagorritxu, BioAraba Res Hlth Inst, Mol Epi Genet Lab, C Jose Atxotegi S-N, ES-01009 Vitoria, Spain

[40] Mayo Clin, Dept Med, Rochester, MN USA

[41] Aarhus Univ Hosp, Dept Endocrinol & Internal Med, Aarhus, Denmark

[42] Bicetre Paris Saclay Hosp HUPS, APHP, Endocrinol & Diabet Children, Le Kremlin Bicetre, France

[43] Birmingham Childrens Hosp, Dept Endocrinol & Diabet, Birmingham, W Midlands, England

[44] Vanderbilt Univ, Med Ctr, Pediat Endocrinol & Diabet, Nashville, TN USA

[45] Univ Penn, Dept Orthoped Surg, Ctr Res FOP & Related Disorders, Perelman Sch Med, Philadelphia, PA 19104 USA

[46] Univ Penn, Dept Genet, Ctr Res FOP & Related Disorders, Perelman Sch Med, Philadelphia, PA 19104 USA

[47] Hop Cochin, APHP, Serv Biochim & Genet Mol, Paris, France

[48] Marmara Univ, Div Endocrinol & Diabet, Dept Pediat, Istanbul, Turkey

[49] Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Bone Ctr, Rotterdam, Netherlands

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2020年 / 93卷 / 03期

关键词：

Acrodysostosis; Bone disorders; Brachydactyly; Calcium and phosphate metabolism; Consensus; Diagnosis; Management; Ossification; Parathyroid hormone; Pseudohypoparathyroidism; Treatment; ALBRIGHT HEREDITARY OSTEODYSTROPHY; PROGRESSIVE OSSEOUS HETEROPLASIA; IDENTIFIES PDE4D MUTATIONS; HORMONE-RELEASING-HORMONE; STIMULATORY G-PROTEIN; PSEUDO-PSEUDOHYPOPARATHYROIDISM; SKELETAL RESPONSIVENESS; INCREASED PREVALENCE; PARATHYROID-HORMONE; ENERGY-EXPENDITURE;

D O I：

10.1159/000508985

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and ready-to-use tool to help physicians and patients outlining relevant interventions and their timing. A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care.

引用

页码：182 / 196

页数：15

共 107 条

[41] 2014 European Thyroid Association Guidelines for the Management of Subclinical Hypothyroidism in Pregnancy and in Children [J].

Lazarus, John ;

Brown, Rosalind S. ;

Daumerie, Chantal ;

Hubalewska-Dydejczyk, Alicja ;

Negro, Roberto ;

Vaidya, Bijay .

EUROPEAN THYROID JOURNAL, 2014, 3 (02) :76-94

[42] Dental and craniofacial features associated with GNAS loss of function mutations [J].

Le Norcy, Elvire ;

Reggio-Paquet, Camille ;

de Kerdanet, Marc ;

Mignot, Brigitte ;

Rothenbuhler, Anya ;

Chaussain, Catherine ;

Linglart, Agnes .

EUROPEAN JOURNAL OF ORTHODONTICS, 2020, 42 (05) :525-533

[43] Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis [J].

Lee, Hane ;

Graham, John M., Jr. ;

Rimoin, David L. ;

Lachman, Ralph S. ;

Krejci, Pavel ;

Tompson, Stuart W. ;

Nelson, Stanley F. ;

Krakow, Deborah ;

Cohn, Daniel H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (04) :746-751

[44] GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders [J].

Lemos, Manuel C. ;

Thakker, Rajesh V. .

HUMAN MUTATION, 2015, 36 (01) :11-19

[45] RESISTANCE TO MULTIPLE HORMONES IN PATIENTS WITH PSEUDOHYPOPARATHYROIDISM - ASSOCIATION WITH DEFICIENT ACTIVITY OF GUANINE-NUCLEOTIDE REGULATORY PROTEIN [J].

LEVINE, MA ;

DOWNS, RW ;

MOSES, AM ;

BRESLAU, NA ;

MARX, SJ ;

LASKER, RD ;

RIZZOLI, RE ;

AURBACH, GD ;

SPIEGEL, AM .

AMERICAN JOURNAL OF MEDICINE, 1983, 74 (04) :545-556

[46] Different mutations in PDE4D associated with developmental disorders with mirror phenotypes [J].

Lindstrand, Anna ;

Grigelioniene, Giedre ;

Nilsson, Daniel ;

Pettersson, Maria ;

Hofmeister, Wolfgang ;

Anderlid, Britt-Marie ;

Kant, Sarina G. ;

Ruivenkamp, Claudia A. L. ;

Gustavsson, Peter ;

Valta, Helena ;

Geiberger, Stefan ;

Topa, Alexandra ;

Lagerstedt-Robinson, Kristina ;

Taylan, Fulya ;

Wincent, Josephine ;

Laurell, Tobias ;

Pekkinen, Minna ;

Nordenskjold, Magnus ;

Makitie, Outi ;

Nordgren, Ann .

JOURNAL OF MEDICAL GENETICS, 2014, 51 (01) :45-54

[47] GNAS1 lesions in pseudohypoparathyroidism Ia and Ic:: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance [J].

Linglart, A ;

Carel, JC ;

Garabédian, M ;

Lé, T ;

Mallet, E ;

Kottler, ML .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (01) :189-197

[48] GNAS-Related Loss-of-Function Disorders and the Role of Imprinting [J].

Linglart, Agnes ;

Maupetit-Mehouas, Stephanie ;

Silve, Caroline .

HORMONE RESEARCH IN PAEDIATRICS, 2013, 79 (03) :119-129

[49] PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance [J].

Linglart, Agnes ;

Fryssira, Helena ;

Hiort, Olaf ;

Holterhus, Paul-Martin ;

Perez de Nanclares, Guiomar ;

Argente, Jesus ;

Heinrichs, Claudine ;

Kuechler, Alma ;

Mantovani, Giovanna ;

Leheup, Bruno ;

Wicart, Philippe ;

Chassot, Virginie ;

Schmidt, Dorothee ;

Rubio-Cabezas, Oscar ;

Richter-Unruh, Annette ;

Berrade, Sara ;

Pereda, Arrate ;

Boros, Emese ;

Teresa Munoz-Calvo, Maria ;

Castori, Marco ;

Gunes, Yasemin ;

Bertrand, Guylene ;

Bougneres, Pierre ;

Clauser, Eric ;

Silve, Caroline .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (12) :E2328-E2338

[50] Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance [J].

Linglart, Agnes ;

Menguy, Christine ;

Couvineau, Alain ;

Auzan, Colette ;

Gunes, Yasemin ;

Cancel, Mathilde ;

Motte, Emmanuelle ;

Pinto, Graziella ;

Chanson, Philippe ;

Bougneres, Pierre ;

Clauser, Eric ;

Silve, Caroline .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (23) :2218-2226

← 1 2 3 4 5 6 7 8 9 10 →