Fibrous Dysplasia/McCune-Albright Syndrome : A Rare, Mosaic Disease of Gα s Activation
Published by Oxford University Press on behalf of the Endocrine Society 2019..
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gα s activation and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype is largely determined by the location and extent of affected tissues, and the pathophysiological effects of Gα s activation within these tissues. In bone, Gα s activation results in impaired differentiation of skeletal stem cells, leading to discrete skeletal lesions prone to fracture, deformity, and pain. Extraskeletal manifestations include a variable combination of hyperpigmented macules and hyperfunctioning endocrinopathies. Distinctive age-related changes in disease development has key effects on histologic, radiographic, and clinical features. FD/MAS thus presents along a uniquely broad clinical spectrum, and the resulting challenges in diagnosis and management can be difficult for clinicians. This review presents FD/MAS in the context of a mosaic disorder of Gα s activation, providing an intellectual framework within which to understand, evaluate, and treat this interesting disease. It includes a comprehensive summary of current understanding of FD/MAS pathogenesis, and a detailed discussion of clinical presentation and management. Critical areas of unmet need are highlighted, including discussion of key challenges and potential solutions to advance research and clinical care in FD/MAS.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2020 |
|---|---|
| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:41 |
|---|---|
| Enthalten in: |
Endocrine reviews - 41(2020), 2 vom: 01. Apr. |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Boyce, Alison M [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 14.07.2021 Date Revised 15.12.2021 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.1210/endrev/bnz011 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM302781560 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM302781560 | ||
| 003 | DE-627 | ||
| 005 | 20231225111440.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1210/endrev/bnz011 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1009.xml |
| 035 | |a (DE-627)NLM302781560 | ||
| 035 | |a (NLM)31673695 | ||
| 035 | |a (PII)bnz011 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Boyce, Alison M |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Fibrous Dysplasia/McCune-Albright Syndrome |b A Rare, Mosaic Disease of Gα s Activation |
| 264 | 1 | |c 2020 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 14.07.2021 | ||
| 500 | |a Date Revised 15.12.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Published by Oxford University Press on behalf of the Endocrine Society 2019. | ||
| 520 | |a Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gα s activation and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype is largely determined by the location and extent of affected tissues, and the pathophysiological effects of Gα s activation within these tissues. In bone, Gα s activation results in impaired differentiation of skeletal stem cells, leading to discrete skeletal lesions prone to fracture, deformity, and pain. Extraskeletal manifestations include a variable combination of hyperpigmented macules and hyperfunctioning endocrinopathies. Distinctive age-related changes in disease development has key effects on histologic, radiographic, and clinical features. FD/MAS thus presents along a uniquely broad clinical spectrum, and the resulting challenges in diagnosis and management can be difficult for clinicians. This review presents FD/MAS in the context of a mosaic disorder of Gα s activation, providing an intellectual framework within which to understand, evaluate, and treat this interesting disease. It includes a comprehensive summary of current understanding of FD/MAS pathogenesis, and a detailed discussion of clinical presentation and management. Critical areas of unmet need are highlighted, including discussion of key challenges and potential solutions to advance research and clinical care in FD/MAS | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Intramural | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a fibroblast growth factor 23 | |
| 650 | 4 | |a growth hormone excess | |
| 650 | 4 | |a metabolic bone disease | |
| 650 | 4 | |a precocious puberty | |
| 650 | 4 | |a skeletal stem cells | |
| 650 | 4 | |a somatic mosaicism | |
| 650 | 7 | |a GTP-Binding Protein alpha Subunits |2 NLM | |
| 700 | 1 | |a Collins, Michael T |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Endocrine reviews |d 1988 |g 41(2020), 2 vom: 01. Apr. |w (DE-627)NLM012613339 |x 1945-7189 |7 nnns |
| 773 | 1 | 8 | |g volume:41 |g year:2020 |g number:2 |g day:01 |g month:04 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1210/endrev/bnz011 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 41 |j 2020 |e 2 |b 01 |c 04 | ||