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dc.contributor.authorHlaing, Phyu M
dc.contributor.authorScott, Ian A
dc.contributor.authorJackson, Richard V
dc.date.accessioned2019-11-04T05:20:37Z
dc.date.available2019-11-04T05:20:37Z
dc.date.issued2019
dc.identifier.issn1444-0903
dc.identifier.doi10.1111/imj.14307
dc.identifier.urihttp://hdl.handle.net/10072/388893
dc.description.abstractBACKGROUND: Type 1 myotonic dystrophy (DM1) patients have a higher incidence of hypercalcemia compared to the general population. The nature and effects of dysregulated calcium metabolism underpinning this phenomenon have not been fully characterised. AIMS: To determine the characteristics of dysregulated calcium metabolism in DM1 patients and its association with bone mineral density. METHODS: Retrospective review of medical records of DM1 patients attending a DM clinic at Logan Hospital, Brisbane, Queensland between 2005 and 2018 and who had concurrent serum assays performed of corrected calcium (cCa), 25 hydroxyvitamin D (25 Vit D), parathyroid hormone (PTH), and phosphate (PO4), and for whom results were available for estimated glomerular filtration rate (eGFR), bone mineral densitometry (BMD) tests and urinary calcium clearance to creatinine clearance ratio (UCCR). RESULTS: Forty-four patients with DM1 (22 females, 22 males) were reviewed of whom 14 (32%) had elevated cCa and inappropriate PTH. Another ten patients (23%) had raised PTH with normocalcemia. Eighteen of 19 (94.7%) patients with hypercalcemia or high PTH level completed 24-hour urinary calcium. All had UCCR ≤0.02. Twelve patients had UCCR <0.01. Seven of 44 (16%) had low 25 Vit D. All patients had normal eGFR. None were osteoporotic. CONCLUSIONS: One in three patients with DM1 were hypercalcemic with unsuppressed PTH. Their clinical features and biochemical pictures resemble those of familial hypocalciuric hypercalcemia (FHH) and raises the possibility that impaired activity of calcium sensing receptors (CaSR), due to abnormal splicing of the CaSR m-RNA in DM1, causes a FHH like syndrome ("Pseudo-FHH of DM1"). This article is protected by copyright. All rights reserved.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherWiley
dc.publisher.placeAustralia
dc.relation.ispartofjournalInternal Medicine Journal
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchCardiorespiratory Medicine and Haematology
dc.subject.fieldofresearchPublic Health and Health Services
dc.subject.fieldofresearchcode1103
dc.subject.fieldofresearchcode1102
dc.subject.fieldofresearchcode1117
dc.subject.keywordsbone mineral densitometry
dc.subject.keywordscalcium sensing receptors
dc.subject.keywordshypercalcemia
dc.subject.keywordsosteoporosis
dc.subject.keywordstype 1 myotonic dystrophy
dc.titleDysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationHlaing, PM; Scott, IA; Jackson, RV, Dysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy., Internal Medicine Journal, 2019
dcterms.dateAccepted2019-04-02
dc.date.updated2019-11-04T05:09:37Z
dc.description.versionAccepted Manuscript (AM)
gro.description.notepublicThis publication has been entered into Griffith Research Online as an Advanced Online Version
gro.rights.copyright© 2019 Royal Australasian College of Physicians. This is the peer reviewed version of the following article: Dysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy, Internal Medicine Journal, 2019, which has been published in final form at https://doi.org/10.1111/imj.14307. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html)
gro.hasfulltextFull Text
gro.griffith.authorJackson, Richard


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