Literature DB >> 17900466

Multicentric carpal-tarsal osteolysis with nephropathy treated successfully with cyclosporine A: a case report and literature review.

Andrew Connor1, John Highton, Noelyn Anne Hung, John Dunbar, Robert MacGinley, Robert Walker.   

Abstract

Multicentric carpal-tarsal osteolysis is a rare skeletal disorder characterized by osteolysis of the metacarpal, carpal, and tarsal bones and leading to crippling joint deformities. Progressive nephropathy occurs in more than half the cases. All previously reported series with renal biopsies showed only end-stage renal disease on histological examination because of the late presentation to nephrologists. Accurate diagnosis of the underlying renal pathological state therefore has not been possible. We report the first case in which early and sequential renal biopsies were performed. These show the renal lesion to be focal and segmental glomerulosclerosis, which was treated successfully with cyclosporine A.

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Year:  2007        PMID: 17900466     DOI: 10.1053/j.ajkd.2007.06.014

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN: 0272-6386            Impact factor:   8.860


  11 in total

1.  Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Authors:  Andreas Zankl; Emma L Duncan; Paul J Leo; Graeme R Clark; Evgeny A Glazov; Marie-Claude Addor; Troels Herlin; Chong Ae Kim; Bruno P Leheup; Jim McGill; Steven McTaggart; Stephan Mittas; Anna L Mitchell; Geert R Mortier; Stephen P Robertson; Marie Schroeder; Paulien Terhal; Matthew A Brown
Journal:  Am J Hum Genet       Date:  2012-03-01       Impact factor: 11.025

2.  A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.

Authors:  Jariya Upadia; Alicia Gomes; Peter Weiser; Maria Descartes
Journal:  J Pediatr Genet       Date:  2018-06-16

3.  Total Hip Arthroplasty in a Patient with Multicentric Carpotarsal Osteolysis: a Case Report.

Authors:  Kai Sun; Brian Barlow; Fardina Malik; Allan Inglis; Mark Figgie; Susan Goodman
Journal:  HSS J       Date:  2016-01-22

4.  Overexpression of Mafb in podocytes protects against diabetic nephropathy.

Authors:  Naoki Morito; Keigyou Yoh; Masami Ojima; Midori Okamura; Megumi Nakamura; Michito Hamada; Homare Shimohata; Takashi Moriguchi; Kunihiro Yamagata; Satoru Takahashi
Journal:  J Am Soc Nephrol       Date:  2014-04-10       Impact factor: 10.121

5.  A retrospective study of focal segmental glomerulosclerosis: clinical criteria can identify patients at high risk for recurrent disease after first renal transplantation.

Authors:  Rutger J H Maas; Jeroen K J Deegens; Jan A J G van den Brand; Elisabeth A M Cornelissen; Jack F M Wetzels
Journal:  BMC Nephrol       Date:  2013-02-22       Impact factor: 2.388

6.  Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.

Authors:  Aleksandra Stajkovska; Sanja Mehandziska; Margarita Stavrevska; Kristina Jakovleva; Natasha Nikchevska; Zan Mitrev; Ivan Kungulovski; Gjorgje Zafiroski; Velibor Tasic; Goran Kungulovski
Journal:  Front Genet       Date:  2018-04-05       Impact factor: 4.599

7.  Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab.

Authors:  Ravit Regev; Etienne B Sochett; Yesmino Elia; Ronald M Laxer; Damien Noone; Kristi Whitney-Mahoney; Kornelia Filipowski; Amer Shamas; Reza Vali
Journal:  Bone Rep       Date:  2021-01-08

8.  Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature.

Authors:  Ashish B Shah; Breann K Tisano; Osama Elattar; Jackson Rucker Staggers; Sameer Naranje
Journal:  J Orthop Case Rep       Date:  2017 Sep-Oct

9.  Three cases of multicentric carpotarsal osteolysis syndrome: a case series.

Authors:  Peong Gang Park; Kee Hyuck Kim; Hye Sun Hyun; Chan Hee Lee; Jin-Su Park; Jeong Hae Kie; Young Hun Choi; Kyung Chul Moon; Hae Il Cheong
Journal:  BMC Med Genet       Date:  2018-09-12       Impact factor: 2.103

10.  Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients.

Authors:  Yuki Tsunakawa; Michito Hamada; Yurina Matsunaga; Sayaka Fuseya; Hyojung Jeon; Yuji Wakimoto; Toshiaki Usui; Maho Kanai; Seiya Mizuno; Naoki Morito; Satoru Takahashi
Journal:  Exp Anim       Date:  2018-10-26
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