Jansen's metaphyseal chondrodysplasia: Difference between revisions
Jump to navigation
Jump to search
Gerald Chi (talk | contribs) No edit summary |
Gerald Chi (talk | contribs) No edit summary |
||
| Line 2: | Line 2: | ||
{{SI}} | {{SI}} | ||
{{CMG}} | {{CMG}} | ||
{{SK}} JMC; Jansen disease; Jansen metaphyseal dysostosis; Murk Jansen type metaphyseal chondrodysplasia | |||
==Overview== | ==Overview== | ||
Jansen's | Jansen's metaphyseal chondrodysplasia is a disease that results from ligand-independent activating mutation of the type 1 of the [[parathyroid hormone receptor]] (PTHR1). | ||
It is | ==Historical Perspective== | ||
It is named for Murk Jansen.<ref>Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.</ref><ref name="pmid3562109">{{cite journal |author=Silverthorn KG, Houston CS, Duncan BP |title=Murk Jansen's metaphyseal chondrodysplasia with long-term followup |journal=Pediatric radiology |volume=17 |issue=2 |pages=119–123 |year=1987 |pmid=3562109 |doi=10.1007/BF02388087}}</ref> | |||
==Presentation== | ==Presentation== | ||
Blood levels of parathryoid hormone (PTH) are undetectable, but the mutation in the PTHR1 leads to auto-activation of the signaling as though the hormone PTH was present. Severe JMC produces a dwarfing [[phenotype]], or short stature. Examination of the bone reveals normal [[epiphyseal plate]]s but disorganized [[metaphyseal]] regions. [[Hypercalcemia]] (elevated levels of calcium in the blood) )and [[hypophosphatemia]] (reduced blood levels of phosphorus), and elevated urinary calcium and phosphorus are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration. | |||
Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a high arched palate, [[micrognathia]] or abnormal smallness of the jaws - particularly the lower (mandible) jaw, [[choana]]l [[stenosis]], wide [[cranial sutures]] and irregular formation of the long bones which can resemble [[rickets]]. | Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a high arched palate, [[micrognathia]] or abnormal smallness of the jaws - particularly the lower (mandible) jaw, [[choana]]l [[stenosis]], wide [[cranial sutures]] and irregular formation of the long bones which can resemble [[rickets]]. [[Nephrocalcinosis]] (accumulation of calcium in the [[interstitum]] of the kidney) is seen commonly as well. | ||
== | ==Treatment== | ||
There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of [[bisphosphonates]]. | |||
== | ==References== | ||
{{Reflist|2}} | |||
== | ==External links== | ||
* [http://www. | * [http://www.orpha.net/data/patho/GB/uk-JansensMetaphChondrodysplasia.pdf Metaphyseal chondrodysplasia, Jansen type -- OrphaNet Information (PDF)] | ||
* [http:// | * [http://www.indianpediatrics.net/april2000/april-435-440.htm Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics] | ||
* [http:// | * [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jansen%20Type%20Metaphyseal%20Chondrodysplasia%20 Jansen Type Metaphyseal Chondrodysplasia -- National Organization for Rare Disorders (NORD)] | ||
* [http://www. | * [http://jcem.endojournals.org/cgi/content/abstract/84/9/3052?ck=nck A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia, The Journal of Clinical Endocrinology & Metabolism (1)] | ||
* [http://www. | * [http://jcem.endojournals.org/cgi/content/full/89/7/3595 A Form of Jansen’s Metaphyseal Chondrodysplasia with Limited Metabolic and Skeletal Abnormalities Is Caused by a Novel Activating Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation, The Journal of Clinical Endocrinology & Metabolism (2)] | ||
* [http://content.nejm.org/cgi/content/full/335/10/708?ijkey=e505b35fd6c285acdebb5d250a337bceb5ac4fe4 Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia, The New England Journal of Medicine] | |||
* [http://mend.endojournals.org/cgi/content/full/11/7/851 Constitutive Activation of the Cyclic Adenosine 3',5'-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen’s Metaphyseal Chondrodysplasia, Molecular Endocrinology ] | |||
* [http://www.genome.jp/dbget-bin/www_bget?omim+156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE GenomeNet] | |||
* [http://www.springerlink.com/content/4808n1k81m0x2m52/ (Abstract Only) - Murk Jansen's metaphyseal chondrodysplasia with long-term followup (Pediatric Radiology) ] | |||
{{Osteochondrodysplasia}} | |||
{{ | {{Receptor deficiencies}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Growth disorders]] | [[Category:Growth disorders]] | ||
[[Category:Cell surface receptor deficiencies]] | |||
[[Category:Rare diseases]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 18:09, 10 August 2013
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: JMC; Jansen disease; Jansen metaphyseal dysostosis; Murk Jansen type metaphyseal chondrodysplasia
Overview
Jansen's metaphyseal chondrodysplasia is a disease that results from ligand-independent activating mutation of the type 1 of the parathyroid hormone receptor (PTHR1).
Historical Perspective
It is named for Murk Jansen.[1][2]
Presentation
Blood levels of parathryoid hormone (PTH) are undetectable, but the mutation in the PTHR1 leads to auto-activation of the signaling as though the hormone PTH was present. Severe JMC produces a dwarfing phenotype, or short stature. Examination of the bone reveals normal epiphyseal plates but disorganized metaphyseal regions. Hypercalcemia (elevated levels of calcium in the blood) )and hypophosphatemia (reduced blood levels of phosphorus), and elevated urinary calcium and phosphorus are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.
Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a high arched palate, micrognathia or abnormal smallness of the jaws - particularly the lower (mandible) jaw, choanal stenosis, wide cranial sutures and irregular formation of the long bones which can resemble rickets. Nephrocalcinosis (accumulation of calcium in the interstitum of the kidney) is seen commonly as well.
Treatment
There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates.
References
- ↑ Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.
- ↑ Silverthorn KG, Houston CS, Duncan BP (1987). "Murk Jansen's metaphyseal chondrodysplasia with long-term followup". Pediatric radiology. 17 (2): 119–123. doi:10.1007/BF02388087. PMID 3562109.
External links
- Metaphyseal chondrodysplasia, Jansen type -- OrphaNet Information (PDF)
- Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics
- Jansen Type Metaphyseal Chondrodysplasia -- National Organization for Rare Disorders (NORD)
- A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia, The Journal of Clinical Endocrinology & Metabolism (1)
- A Form of Jansen’s Metaphyseal Chondrodysplasia with Limited Metabolic and Skeletal Abnormalities Is Caused by a Novel Activating Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation, The Journal of Clinical Endocrinology & Metabolism (2)
- Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia, The New England Journal of Medicine
- Constitutive Activation of the Cyclic Adenosine 3',5'-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen’s Metaphyseal Chondrodysplasia, Molecular Endocrinology
- METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE GenomeNet
- (Abstract Only) - Murk Jansen's metaphyseal chondrodysplasia with long-term followup (Pediatric Radiology)
Template:Osteochondrodysplasia Template:Receptor deficiencies