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

被引:9
|
作者
Drovandi, Stefania [1 ]
Lugani, Francesca [2 ]
Boyer, Olivia [3 ]
La Porta, Edoardo [1 ]
Giordano, Paolo [1 ]
Hummel, Aurelie [3 ]
Knebelmann, Bertrand [4 ]
Cornet, Josephine [4 ]
Baujat, Genevieve [5 ]
Lipska-Zietkiewicz, Beata S. [6 ,7 ]
Ghiggeri, Gian Marco [1 ,2 ]
Caridi, Gianluca [2 ]
Angeletti, Andrea [1 ,2 ]
机构
[1] IRCCS Ist Giannina Gaslini, Div Nephrol Dialysis & Transplantat, I-16147 Genoa, Italy
[2] IRCCS Ist Giannina Gaslini, Lab Mol Nephrol, I-16147 Genoa, Italy
[3] Univ Paris Cite, Hop Univ Necker Enfants Malad, Ctr Reference MARHEA, Inst Imagine,PHP,Serv Nephrol Pediat, F-75015 Paris, France
[4] Paris Univ, Necker Hosp, AP HP, Nephrol Dept,Reference Ctr Inherited Kidney Dis M, F-75015 Paris, France
[5] Univ Paris, Reference Ctr Constitut Bone Dis, Imagine Inst, Lab Osteochondrodysplasia,INSERM UMR 1163, F-75015 Paris, France
[6] Med Univ Gdansk, Rare Dis Ctr, PL-80210 Gdansk, Poland
[7] Med Univ Gdansk, Dept Biol & Med Genet, Clin Genet Unit, PL-80210 Gdansk, Poland
关键词
multicentric carpotarsal syndrome; monogenic kidney disease; hereditary podocytopathy; glomerulonephritis; nephrotic syndrome; renal failure; CYCLOSPORINE-A; TARSAL OSTEOLYSIS; MUTATIONS; PODOCYTES; EXPRESSION; DOMAIN;
D O I
10.3390/jcm11154423
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页数:9
相关论文
共 50 条
  • [31] ESSENTIAL OSTEOLYSIS WITH NEPHROPATHY - A REVIEW OF LITERATURE AND CASE REPORT OF AN UNUSUAL SYNDROME
    TORG, JS
    STEEL, HH
    JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1968, A 50 (08): : 1629 - &
  • [32] Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
    Stajkovska, Aleksandra
    Mehandziska, Sanja
    Stavrevska, Margarita
    Jakovleva, Kristina
    Nikchevska, Natasha
    Mitrev, Zan
    Kungulovski, Ivan
    Zafiroski, Gjorgje
    Tasic, Velibor
    Kungulovski, Goran
    FRONTIERS IN GENETICS, 2018, 9
  • [33] Multicentric carpal-tarsal osteolysis with nephropathy treated successfully with cyclosporine A: A case report and literature review
    Connor, Andrew
    Highton, John
    Hung, Noelyn Anne
    Dunbar, John
    MacGinley, Robert
    Walker, Robert
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2007, 50 (04) : 649 - 654
  • [34] Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab
    Regev, Ravit
    Sochett, Etienne B.
    Elia, Yesmino
    Laxer, Ronald M.
    Noone, Damien
    Whitney-Mahoney, Kristi
    Filipowski, Kornelia
    Shamas, Amer
    Vali, Reza
    BONE REPORTS, 2021, 14
  • [35] Multicentric Osteolysis Nodulosis and Arthropathy (MONA): A Case Series and Review of the Literature
    Mamadapur, Mahabaleshwar
    Mahadevan, Sabarinath
    Arulrajamurugan, Ponniah Subramanian
    Gandham, Srilakshmi
    Singh, Swati
    MEDITERRANEAN JOURNAL OF RHEUMATOLOGY, 2024, 35 (03):
  • [36] IDIOPATHIC MULTICENTRIC OSTEOLYSIS - REPORT OF 2 NEW CASES AND A REVIEW OF THE LITERATURE
    BARR, RJ
    HUGHES, AE
    MOLLAN, RAB
    NEVIN, NC
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (04): : 556 - 556
  • [37] IDIOPATHIC MULTICENTRIC OSTEOLYSIS - REPORT OF 2 NEW CASES AND A REVIEW OF THE LITERATURE
    PAI, GS
    MACPHERSON, RI
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (04): : 929 - 936
  • [38] Mitochondrial MS mimickers: A literature review and a novel form associated to variants in the TUFM gene
    Hasan, Hanifa
    Chen, Shihan
    Brais, Bernard
    La Piana, Roberta
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [39] Mitochondrial MS Mimickers: a Novel Form Associated to Variants in the TUFM Gene and a Literature Review
    Chen, S.
    Hasan, H.
    La Piana, R.
    MULTIPLE SCLEROSIS JOURNAL, 2023, 29 : 80 - 80
  • [40] A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy
    Kroger, Liisa
    Lopponen, Tuija
    Ala-Kokko, Leena
    Kroger, Heikki
    Jauhonen, Hanna-Mari
    Lehti, Kaisa
    Jaaskelainen, Jarmo
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (08):