Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> 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 <i>MAFB</i> gene. The skeletal disorder is often associated...
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MDPI AG
2022-07-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/15/4423 |
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| author | Stefania Drovandi Francesca Lugani Olivia Boyer Edoardo La Porta Paolo Giordano Aurélie Hummel Bertrand Knebelmann Joséphine Cornet Genevieve Baujat Beata S. Lipska-Ziętkiewicz Gian Marco Ghiggeri Gianluca Caridi Andrea Angeletti |
| author_facet | Stefania Drovandi Francesca Lugani Olivia Boyer Edoardo La Porta Paolo Giordano Aurélie Hummel Bertrand Knebelmann Joséphine Cornet Genevieve Baujat Beata S. Lipska-Ziętkiewicz Gian Marco Ghiggeri Gianluca Caridi Andrea Angeletti |
| author_sort | Stefania Drovandi |
| collection | DOAJ |
| 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 <i>MAFB</i> 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. |
| first_indexed | 2024-03-09T05:18:37Z |
| format | Article |
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| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T05:18:37Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-dff3dcddbf0841638cb265bd1d9abc402023-12-03T12:43:08ZengMDPI AGJournal of Clinical Medicine2077-03832022-07-011115442310.3390/jcm11154423Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature ReviewStefania Drovandi0Francesca Lugani1Olivia Boyer2Edoardo La Porta3Paolo Giordano4Aurélie Hummel5Bertrand Knebelmann6Joséphine Cornet7Genevieve Baujat8Beata S. Lipska-Ziętkiewicz9Gian Marco Ghiggeri10Gianluca Caridi11Andrea Angeletti12Division of Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyLaboratory of Molecular Nephrology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyPHP, Service de Néphrologie Pédiatrique, Institut Imagine, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants Malades, Université Paris Cité, 75015 Paris, FranceDivision of Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyDivision of Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyPHP, Service de Néphrologie Pédiatrique, Institut Imagine, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants Malades, Université Paris Cité, 75015 Paris, FranceNephrology Department, Reference Center for Inherited Kidney Diseases (MARHEA), APHP, Necker Hospital, Paris University, 75015 Paris, FranceNephrology Department, Reference Center for Inherited Kidney Diseases (MARHEA), APHP, Necker Hospital, Paris University, 75015 Paris, FranceReference Centre for Constitutional Bone Diseases, Laboratory of Osteochondrodysplasia, INSERM UMR 1163, Imagine Institute, Université de Paris, 75015 Paris, FranceRare Diseases Centre, Medical University of Gdansk, 80-210 Gdansk, PolandDivision of Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyLaboratory of Molecular Nephrology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyDivision of Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyMulticentric 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 <i>MAFB</i> 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.https://www.mdpi.com/2077-0383/11/15/4423multicentric carpotarsal syndromemonogenic kidney diseasehereditary podocytopathyglomerulonephritisnephrotic syndromerenal failure |
| spellingShingle | Stefania Drovandi Francesca Lugani Olivia Boyer Edoardo La Porta Paolo Giordano Aurélie Hummel Bertrand Knebelmann Joséphine Cornet Genevieve Baujat Beata S. Lipska-Ziętkiewicz Gian Marco Ghiggeri Gianluca Caridi Andrea Angeletti Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review Journal of Clinical Medicine multicentric carpotarsal syndrome monogenic kidney disease hereditary podocytopathy glomerulonephritis nephrotic syndrome renal failure |
| title | Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review |
| title_full | Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review |
| title_fullStr | Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review |
| title_full_unstemmed | Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review |
| title_short | Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review |
| title_sort | multicentric carpotarsal osteolysis syndrome associated nephropathy novel variants of i mafb i gene and literature review |
| topic | multicentric carpotarsal syndrome monogenic kidney disease hereditary podocytopathy glomerulonephritis nephrotic syndrome renal failure |
| url | https://www.mdpi.com/2077-0383/11/15/4423 |
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