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

被引：43

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 50 条

[21] Identification and treatment of augmentation in patients with restless legs syndrome: practical recommendations
Geyer, James
Bogan, Richard
POSTGRADUATE MEDICINE, 2017, 129 (07) : 667 - 675
[22] Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report
Raspeno, Monica Exposito
Escudero, Veronica Sanchez
Leal, Guiomar Perez de Nanclares
Santamaria, Maria Ortiz
Saez, Rosa Sanchez-Dehesa
Cuartero, Beatriz Garcia
Vergaz, Amparo Gonzalez
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 37 (03) : 289 - 295
[23] The Diagnosis and Treatment of Adult Patients with SAPHO Syndrome: Controversies Revealed in a Multidisciplinary International Survey of Physicians
Furer, Victoria
Kishimoto, Mitsumasa
Tsuji, Shigeyoshi
Taniguchi, Yoshinori
Ishihara, Yoko
Tomita, Tetsuya
Helliwell, Philip S.
Elkayam, Ori
RHEUMATOLOGY AND THERAPY, 2020, 7 (04) : 883 - 891
[24] The Diagnosis and Treatment of Adult Patients with SAPHO Syndrome: Controversies Revealed in a Multidisciplinary International Survey of Physicians
Victoria Furer
Mitsumasa Kishimoto
Shigeyoshi Tsuji
Yoshinori Taniguchi
Yoko Ishihara
Tetsuya Tomita
Philip S. Helliwell
Ori Elkayam
Rheumatology and Therapy, 2020, 7 : 883 - 891
[25] The Association Between Diagnosis, Treatment Delay and Outcome Among Patients with Bipolar Disorders
Igor Oyffe
Rachel Shwizer
Tali Stolovy
Psychiatric Quarterly, 2015, 86 : 95 - 105
[26] The Association Between Diagnosis, Treatment Delay and Outcome Among Patients with Bipolar Disorders
Oyffe, Igor
Shwizer, Rachel
Stolovy, Tali
PSYCHIATRIC QUARTERLY, 2015, 86 (01) : 95 - 105
[27] Diagnosis and Treatment of Patients with Autoimmune Bullous Disorders in Germany
Schmidt, Enno
Zillikens, Detlef
DERMATOLOGIC CLINICS, 2011, 29 (04) : 663 - +
[28] Patients with epilepsy and anxiety disorders. Diagnosis and treatment
Beyenburg, S
Schmidt, D
NERVENARZT, 2005, 76 (09): : 1077 - +
[29] AGO Recommendations for the Diagnosis and Treatment of Patients with Locally Advanced and Metastatic Breast Cancer: Update 2022
Thill, Marc
Lueftner, Diana
Kolberg-Liedtke, Cornelia
Albert, Ute-Susann
Banys-Paluchowski, Maggie
Bauerfeind, Ingo
Blohmer, Jens-Uwe
Budach, Wilfried
Dall, Peter
Fallenberg, Eva Maria
Fasching, Peter A.
Fehm, Tanja
Friedrich, Michael
Gerber, Bernd
Gluz, Oleg
Harbeck, Nadia
Heil, Joerg
Huober, Jens
Jackisch, Christian
Kreipe, Hans-Heinrich
Krug, David
Kuehn, Thorsten
Kuemmel, Sherko
Loibl, Sibylle
Lux, Michael
Maass, Nicolai
Mundhenke, Christoph
Nitz, Ulrike
Park-Simon, Tjoung-Won
Reimer, Toralf
Rhiem, Kerstin
Rody, Achim
Schmidt, Marcus
Schneeweiss, Andreas
Schuetz, Florian
Sinn, Hans-Peter
Solbach, Christine
Solomayer, Erich-Franz
Stickeler, Elmar
Thomssen, Christoph
Untch, Michael
Witzel, Isabell
Woeckel, Achim
Mueller, Volkmar
Janni, Wolfgang
Ditsch, Nina
BREAST CARE, 2022, 17 (04) : 421 - 429
[30] Age-Related Aspects and Clinical Implications of Diagnosis and Treatment of Personality Disorders in Older Adults
van Alphen, S. P. J.
Bolwerk, N.
Videler, A. C.
Tummers, J. H. A.
van Royen, R. J. J.
Barendse, H. P. J.
Verheul, R.
Rosowsky, E.
CLINICAL GERONTOLOGIST, 2012, 35 (01) : 27 - 41

← 1 2 3 4 5 →