Cargando…

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal disorder is often associated with chronic kidney...

Descripción completa

Detalles Bibliográficos
Autores principales: Drovandi, Stefania, Lugani, Francesca, Boyer, Olivia, La Porta, Edoardo, Giordano, Paolo, Hummel, Aurélie, Knebelmann, Bertrand, Cornet, Joséphine, Baujat, Genevieve, Lipska-Ziętkiewicz, Beata S., Ghiggeri, Gian Marco, Caridi, Gianluca, Angeletti, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369440/
https://www.ncbi.nlm.nih.gov/pubmed/35956038
http://dx.doi.org/10.3390/jcm11154423
_version_ 1784766459160821760
author Drovandi, Stefania
Lugani, Francesca
Boyer, Olivia
La Porta, Edoardo
Giordano, Paolo
Hummel, Aurélie
Knebelmann, Bertrand
Cornet, Joséphine
Baujat, Genevieve
Lipska-Ziętkiewicz, Beata S.
Ghiggeri, Gian Marco
Caridi, Gianluca
Angeletti, Andrea
author_facet Drovandi, Stefania
Lugani, Francesca
Boyer, Olivia
La Porta, Edoardo
Giordano, Paolo
Hummel, Aurélie
Knebelmann, Bertrand
Cornet, Joséphine
Baujat, Genevieve
Lipska-Ziętkiewicz, Beata S.
Ghiggeri, Gian Marco
Caridi, Gianluca
Angeletti, Andrea
author_sort Drovandi, Stefania
collection PubMed
description Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal disorder is often associated with chronic kidney disease. Data on clinical characterization and best treatment option of MCTO-associated nephropathy are scarce and mostly limited to case reports. With the aim to better define the phenotype and long-term outcomes of MCTO-associated nephropathy, we launched an online survey through the Workgroup for hereditary glomerulopathies of the European Rare Kidney Disease Network (ERKNet). Overall, we collected clinical and genetic data of 54 MCTO patients, of which 42 previously described and 12 new patients. We observed a high rate of kidney involvement (70%), early age of kidney disease onset, nephrotic-range proteinuria, and a kidney survival around of 40% at long-term follow-up. Our finding confirmed the heterogeneity of clinical manifestations and widen the spectrum of phenotypes resulting from MCTO-associated nephropathy. Furthermore, we report the first case of complete remission after treatment with cyclosporine A. We demonstrated that multidisciplinary care is essential for MCTO patients and early referral to nephrologists is therefore warranted to facilitate prompt treatment.
format Online
Article
Text
id pubmed-9369440
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-93694402022-08-12 Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review Drovandi, Stefania Lugani, Francesca Boyer, Olivia La Porta, Edoardo Giordano, Paolo Hummel, Aurélie Knebelmann, Bertrand Cornet, Joséphine Baujat, Genevieve Lipska-Ziętkiewicz, Beata S. Ghiggeri, Gian Marco Caridi, Gianluca Angeletti, Andrea J Clin Med Article Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal disorder is often associated with chronic kidney disease. Data on clinical characterization and best treatment option of MCTO-associated nephropathy are scarce and mostly limited to case reports. With the aim to better define the phenotype and long-term outcomes of MCTO-associated nephropathy, we launched an online survey through the Workgroup for hereditary glomerulopathies of the European Rare Kidney Disease Network (ERKNet). Overall, we collected clinical and genetic data of 54 MCTO patients, of which 42 previously described and 12 new patients. We observed a high rate of kidney involvement (70%), early age of kidney disease onset, nephrotic-range proteinuria, and a kidney survival around of 40% at long-term follow-up. Our finding confirmed the heterogeneity of clinical manifestations and widen the spectrum of phenotypes resulting from MCTO-associated nephropathy. Furthermore, we report the first case of complete remission after treatment with cyclosporine A. We demonstrated that multidisciplinary care is essential for MCTO patients and early referral to nephrologists is therefore warranted to facilitate prompt treatment. MDPI 2022-07-29 /pmc/articles/PMC9369440/ /pubmed/35956038 http://dx.doi.org/10.3390/jcm11154423 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Drovandi, Stefania
Lugani, Francesca
Boyer, Olivia
La Porta, Edoardo
Giordano, Paolo
Hummel, Aurélie
Knebelmann, Bertrand
Cornet, Joséphine
Baujat, Genevieve
Lipska-Ziętkiewicz, Beata S.
Ghiggeri, Gian Marco
Caridi, Gianluca
Angeletti, Andrea
Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
title Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
title_full Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
title_fullStr Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
title_full_unstemmed Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
title_short Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
title_sort multicentric carpotarsal osteolysis syndrome associated nephropathy: novel variants of mafb gene and literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369440/
https://www.ncbi.nlm.nih.gov/pubmed/35956038
http://dx.doi.org/10.3390/jcm11154423
work_keys_str_mv AT drovandistefania multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT luganifrancesca multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT boyerolivia multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT laportaedoardo multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT giordanopaolo multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT hummelaurelie multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT knebelmannbertrand multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT cornetjosephine multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT baujatgenevieve multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT lipskazietkiewiczbeatas multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT ghiggerigianmarco multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT caridigianluca multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview
AT angelettiandrea multicentriccarpotarsalosteolysissyndromeassociatednephropathynovelvariantsofmafbgeneandliteraturereview