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1. Corrigendum: Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaude, Laure, Tete, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schafer, Tobias, Pape, Lars, Godel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Gunter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Moriniere, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschke, Patrick, Ahluwalia, Tarunveer S., Kottgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, and Simons, Matias

Subjects
Health care industry
Abstract

Original citation: J Clin Invest. 2020;130(1):335-344. https://doi.org/10.1172/JCI129937. Citation for this corrigendum: J Clin Invest. 2022;132(11):e161852. https://doi.org/10.1172/JCI161852. The authors recently became aware that the standard errors for the diabetes group were [...]

Published
2022
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2. Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children

Author

Azabdaftari, Aline, primary, Sczakiel, Henrike L., additional, Danyel, Magdalena, additional, Kohlmaier, Benno, additional, Mache, Christoph J., additional, Stalke, Amelie, additional, Pfister, Eva‐Doreen, additional, Thumfart, Julia, additional, Henning, Stephan, additional, Knisely, A. S., additional, and Bufler, Philip, additional

Published
2023
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3. Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review

Author

Schigt, Heidi, primary, Bald, Martin, additional, van der Eerden, Bram C J, additional, Gal, Lars, additional, Ilenwabor, Barnabas P, additional, Konrad, Martin, additional, Levine, Michael A, additional, Li, Dong, additional, Mache, Christoph J, additional, Mackin, Sharon, additional, Perry, Colin, additional, Rios, Francisco J, additional, Schlingmann, Karl Peter, additional, Storey, Ben, additional, Trapp, Christine M, additional, Verkerk, Annemieke J M H, additional, Zillikens, M Carola, additional, Touyz, Rhian M, additional, Hoorn, Ewout J, additional, Hoenderop, Joost G J, additional, and de Baaij, Jeroen H F, additional

Published
2023
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4. Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome:a case series and systematic literature review

Author

Schigt, Heidi, Bald, Martin, van der Eerden, Bram C.J., Gal, Lars, Ilenwabor, Barnabas P., Konrad, Martin, Levine, Michael A., Li, Dong, Mache, Christoph J., Mackin, Sharon, Perry, Colin, Rios, Francisco J., Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M., Verkerk, Annemieke J.M.H., Zillikens, M. Carola, Touyz, Rhian M., Hoorn, Ewout J., Hoenderop, Joost G.J., de Baaij, Jeroen H.F., Schigt, Heidi, Bald, Martin, van der Eerden, Bram C.J., Gal, Lars, Ilenwabor, Barnabas P., Konrad, Martin, Levine, Michael A., Li, Dong, Mache, Christoph J., Mackin, Sharon, Perry, Colin, Rios, Francisco J., Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M., Verkerk, Annemieke J.M.H., Zillikens, M. Carola, Touyz, Rhian M., Hoorn, Ewout J., Hoenderop, Joost G.J., and de Baaij, Jeroen H.F.

Abstract

Context: Kenny–Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish. Objective: The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders. Methods: We clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers. Results: Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common. Conclusion: Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.

Published
2023

6. Renal Parenchymal Disease

Author

Riccabona, Michael, Mache, Christoph J., Ring, Ekkehard, Baert, A. L., editor, Knauth, M., editor, Sartor, K., editor, and Fotter, Richard, editor

Published
2008
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7. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, primary, Boyer, Olivia, additional, Servais, Aude, additional, Li, Yong, additional, Villoing-Gaudé, Laure, additional, Tête, Marie-Josephe, additional, Cambier, Alexandra, additional, Hogan, Julien, additional, Baudouin, Veronique, additional, Krid, Saoussen, additional, Bensman, Albert, additional, Lammens, Florie, additional, Louillet, Ferielle, additional, Ranchin, Bruno, additional, Vigneau, Cecile, additional, Bouteau, Iseline, additional, Isnard-Bagnis, Corinne, additional, Mache, Christoph J., additional, Schäfer, Tobias, additional, Pape, Lars, additional, Gödel, Markus, additional, Huber, Tobias B., additional, Benz, Marcus, additional, Klaus, Günter, additional, Hansen, Matthias, additional, Latta, Kay, additional, Gribouval, Olivier, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Grohmann, Maik, additional, Kuhn, Elisa, additional, Wagner, Timo, additional, Bole-Feysot, Christine, additional, Jabot-Hanin, Fabienne, additional, Nitschké, Patrick, additional, Ahluwalia, Tarunveer S., additional, Köttgen, Anna, additional, Andersen, Christian Brix Folsted, additional, Bergmann, Carsten, additional, Antignac, Corinne, additional, and Simons, Matias, additional

Published
2022
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9. PAEDIATRIC NEPHROLOGY

Author

Vidal, Enrico, Van Stralen, Karlijn J, Schaefer, Franz, Adams, Brigitte, Bjerre, Anna, Dusunsel, Ruhan, Emirova, Kh. M, Esteves Da Silva, Josè Eduardo, Herthelius, Maria, Holmberg, Christer, Jankauskiene, Augustina, Mache, Christoph J, Miteva, Polina, Sanchez-Moreno, Ana, Trivelli, Antonella, Zurowska, Aleksandra, Groothoff, Jaap W, Jager, Kitty, and Verrina, Enrico

Published
2014

14. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, primary, Boyer, Olivia, additional, Servais, Aude, additional, Li, Yong, additional, Villoing-Gaudé, Laure, additional, Tête, Marie-Josephe, additional, Cambier, Alexandra, additional, Hogan, Julien, additional, Baudouin, Veronique, additional, Krid, Saoussen, additional, Bensman, Albert, additional, Lammens, Florie, additional, Louillet, Ferielle, additional, Ranchin, Bruno, additional, Vigneau, Cecile, additional, Bouteau, Iseline, additional, Isnard-Bagnis, Corinne, additional, Mache, Christoph J., additional, Schäfer, Tobias, additional, Pape, Lars, additional, Gödel, Markus, additional, Huber, Tobias B., additional, Benz, Marcus, additional, Klaus, Günter, additional, Hansen, Matthias, additional, Latta, Kay, additional, Gribouval, Olivier, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Grohmann, Maik, additional, Kuhn, Elisa, additional, Wagner, Timo, additional, Bole-Feysot, Christine, additional, Jabot-Hanin, Fabienne, additional, Nitschké, Patrick, additional, Ahluwalia, Tarunveer S., additional, Köttgen, Anna, additional, Andersen, Christian Brix Folsted, additional, Bergmann, Carsten, additional, Antignac, Corinne, additional, and Simons, Matias, additional

Published
2019
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16. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Author

Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, Bitner-Glindzicz, Maria, Blind, Eberhard, Bloch, Catherine, Christin, Patricia, Clayton, Peter, Gecz, Jozef, Gilbert-Dussardier, Brigitte, Guillen-Navarro, Encarna, Hackett, Anna, Halac, Isil, Hendy, Geoffrey N., Lalloo, Fiona, Mache, Christoph J., Mughal, Zulf, Ong, Albert C.M., Rinat, Choni, Shaw, Nicholas, Smithson, Sarah F., Tolmie, John, Weill, Jacques, Nesbit, M. Andrew, and Thakker, Rajesh V.

Published
2007

22. Successful treatment of chronic recurrent multifocal osteomyelitis with tumor necrosis factor-[alpha] blockage

Author

Deutschmann, Andrea, Mache, Christoph J., Bodo, Koppany, Zebedin, Doris, and Ring, Ekkehard

Subjects
Osteomyelitis -- Case studies, Tumor necrosis factor -- Health aspects
Abstract

We describe the case of an 18-year-old girl with chronic recurrent multifocal osteomyelitis (CRMO) over a period of 10 years. She had suffered predominantly from very painful recurrent swelling of her cheeks. Various therapeutic regimens including nonsteroidal antiinflammatory drugs and steroids had shown only a partial or temporary response. Because tumor necrosis factor-[alpha]-blocking agents have been successfully applied in Crohn's-associated CRMO and the related SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome, tumor necrosis factor-[alpha]-blocking therapy with infliximab was initiated. Thereafter, apart from 1 mild episode, no additional recurrences were observed during 21 months of follow-up. Infliximab was well tolerated, and steroids were tapered off. Our observation indicates that infliximab may be an effective therapeutic option in CRMO. Pediatrics 2005;116: 1231-1233; chronic recurrent multifocal osteomyelitis, CRMO, tumor necrosis factor-[alpha] blockage, infliximab. ABBREVIATIONS. CRMO, chronic recurrent multifocal osteomyelitis; TNF-[alpha], tumor necrosis factor-[alpha]; NSAID, nonsteroidal antiinflammatory drug; SAPHO, synovitis, acne, pustulosis, hyperostosis and osteitis., Because the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO) is unknown, a causal therapy is not available. We report our experience with tumor necrosis factor-[alpha] (TNF-[alpha]) blockage in a patient [...]

Published
2005

25. Undifferentiated (embryonal) sarcoma of the liver in childhood: successful combined-modality therapy in four patients

Author

Urban, Christian E., Mache, Christoph J., Schwinger, Wolfgang, Pakisch, Brigitte, Ranner, Gerhard, Riccabona, Michael, Schimpl, Gunther, Brandesky, Gernot, Messner, Heimo, Pobegen, Walter, Becker, Hans, and Grienberger, Heinz

Subjects
Liver tumors -- Care and treatment, Sarcoma -- Care and treatment, Combined modality therapy -- Usage, Radiotherapy -- Usage, Chemotherapy -- Usage, Tumors in children -- Case studies, Health
Abstract

Background. Undifferentiated (embryonal) sarcoma of the liver is a rare, highly malignant, mesenchymal tumor presenting predominantly in late childhood. Four girls, ages 6-13 years, who were treated with combined-modality regimens are reported. Methods. In the first and second patients, hemihepatectomy resulted in complete removal of the tumor, and multiple-agent chemotherapy was administered postoperatively. In the third patient, only partial resection could be accomplished initially. By synchronous radiation therapy and chemotherapy, the tumor decreased to an extent that it could be resected completely and was totally devitalized on histologic examination. Postoperative chemotherapy was discontinued after 8 weeks. In the fourth patient, the tumor was not resectable at diagnostic biopsy. Polychemotherapy led to a significant reduction of the tumor size, and resection with clear margins could be performed subsequently. Because histologic necrosis amounted to about 95%, postoperative chemotherapy was also discontinued after 6 weeks. Results. All four patients remain well without evidence of tumor recurrence after 79, 41, 36, and 22 months from diagnosis. Conclusions. The authors suggest that a multimodal therapeutic regimen should be used in patients with undifferentiated hepatic sarcoma.

Published
1993

26. Infants Requiring Maintenance Dialysis: Outcomes of Hemodialysis and Peritoneal Dialysis

Author

Vidal, Enrico, primary, van Stralen, Karlijn J., additional, Chesnaye, Nicholas C., additional, Bonthuis, Marjolein, additional, Holmberg, Christer, additional, Zurowska, Aleksandra, additional, Trivelli, Antonella, additional, Da Silva, José Eduardo Esteves, additional, Herthelius, Maria, additional, Adams, Brigitte, additional, Bjerre, Anna, additional, Jankauskiene, Augustina, additional, Miteva, Polina, additional, Emirova, Khadizha, additional, Bayazit, Aysun K., additional, Mache, Christoph J., additional, Sánchez-Moreno, Ana, additional, Harambat, Jérôme, additional, Groothoff, Jaap W., additional, Jager, Kitty J., additional, Schaefer, Franz, additional, Verrina, Enrico, additional, Shtiza, D., additional, Kramar, R., additional, Oberbauer, R., additional, Baiko, S., additional, Sukalo, A., additional, van Hoeck, K., additional, Collart, F., additional, des Grottes, J.M., additional, Pokrajac, D., additional, Roussinov, D., additional, Batinić, D., additional, Lemac, M., additional, Slavicek, J., additional, Seeman, T., additional, Vondrak, K., additional, Heaf, J.G., additional, Toots, U., additional, Finne, P., additional, Grönhagen-Riska, C., additional, Couchoud, C., additional, Lasalle, M., additional, Sahpazova, E., additional, Abazi, N., additional, Ristoka Bojkovska, N., additional, von Gersdorff, G., additional, Scholz, C., additional, Tönshoff, B., additional, Krupka, K., additional, Höcker, B., additional, Pape, L., additional, Afentakis, N., additional, Kapogiannis, A., additional, Printza, N., additional, Reusz, G., additional, Berecki, C.S., additional, Szabó, A., additional, Szabó, T., additional, Györke, Z.S., additional, Kis, E., additional, Palsson, R., additional, Edvardsson, V., additional, Gianoglio, B., additional, Maringhini, S., additional, Pecoraro, C., additional, Picca, S., additional, Testa, S., additional, Rudaitis, S., additional, Said-Conti, V., additional, Gatcan, S., additional, Berbeca, O., additional, Zaikova, N., additional, Pavićević, S., additional, Leivestad, T., additional, Zagozdzon, I., additional, Mota, C., additional, Almeida, M., additional, Afonso, C., additional, Mircescu, G., additional, Garneata, L., additional, Molchanova, E.A., additional, Tomilina, N.A., additional, Bikbov, B.T., additional, Kostic, M., additional, Peco-Antic, A., additional, Spasojevic-Dimitrijeva, B., additional, Milosevski-Lomic, G., additional, Paripovic, D., additional, Puric, S., additional, Kruscic, D., additional, Podracka, L., additional, Kolvek, G., additional, Buturovic-Ponikvar, J., additional, Novljan, G., additional, Battelino, N., additional, Alonso Melgar, A., additional, Schön, S., additional, Prütz, K.G., additional, Backmän, L., additional, Stendahl, M., additional, Evans, M., additional, Rippe, B., additional, Kuenhi, C.E., additional, Maurer, E., additional, Laube, G.F., additional, Tschumi, S., additional, Parvex, P., additional, Hoitsma, A., additional, Hemke, A., additional, Topaloglu, R., additional, Ivanov, D., additional, Pruthi, R., additional, Braddon, F., additional, Mannings, S., additional, Cassula, A., additional, and Sinha, M.D., additional

Published
2017
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30. Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review

Author

Schigt, Heidi, Bald, Martin, van der Eerden, Bram C J, Gal, Lars, Ilenwabor, Barnabas P, Konrad, Martin, Levine, Michael A, Li, Dong, Mache, Christoph J, Mackin, Sharon, Perry, Colin, Rios, Francisco J, Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M, Verkerk, Annemieke J M H, Zillikens, M Carola, Touyz, Rhian M, Hoorn, Ewout J, Hoenderop, Joost G J, and de Baaij, Jeroen H F

Abstract

This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.1210/clinem/dgad147.

Published
2023
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47. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Author

Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Yong Li, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schäfer, Tobias, and Pape, Lars

Subjects
*FOCAL segmental glomerulosclerosis, *PROTEINURIA, *GENETIC disorders, *KIDNEY diseases, *LIGAND binding (Biochemistry), *VITAMIN B12, *MALABSORPTION syndromes, *RESEARCH, *GENETIC mutation, *MACROCYTIC anemia, *VITAMIN deficiency, *RESEARCH methodology, *KIDNEY tubules, *CELL receptors, *EVALUATION research, *MEDICAL cooperation, *COMPARATIVE studies, *ALBUMINURIA
Abstract

BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorption of vitamin B12 and in some cases proteinuria. CUBN encodes for cubilin, an intestinal and proximal tubular uptake receptor containing 27 CUB domains for ligand binding.METHODSWe used next-generation sequencing for renal disease genes to genotype cohorts of patients with suspected hereditary renal disease and chronic proteinuria. CUBN variants were analyzed using bioinformatics, structural modeling, and epidemiological methods.RESULTSWe identified 39 patients, in whom biallelic pathogenic variants in the CUBN gene were associated with chronic isolated proteinuria and early childhood onset. Since the proteinuria in these patients had a high proportion of albuminuria, glomerular diseases such as steroid-resistant nephrotic syndrome or Alport syndrome were often the primary clinical diagnosis, motivating renal biopsies and the use of proteinuria-lowering treatments. However, renal function was normal in all cases. By contrast, we did not found any biallelic CUBN variants in proteinuric patients with reduced renal function or focal segmental glomerulosclerosis. Unlike the more N-terminal IGS mutations, 37 of the 41 proteinuria-associated CUBN variants led to modifications or truncations after the vitamin B12-binding domain. Finally, we show that 4 C-terminal CUBN variants are associated with albuminuria and slightly increased GFR in meta-analyses of large population-based cohorts.CONCLUSIONCollectively, our data suggest an important role for the C-terminal half of cubilin in renal albumin reabsorption. Albuminuria due to reduced cubilin function could be an unexpectedly common benign condition in humans that may not require any proteinuria-lowering treatment or renal biopsy.FUNDINGATIP-Avenir program, Fondation Bettencourt-Schueller (Liliane Bettencourt Chair of Developmental Biology), Agence Nationale de la Recherche (ANR) Investissements d'avenir program (ANR-10-IAHU-01) and NEPHROFLY (ANR-14-ACHN-0013, to MS), Steno Collaborative Grant 2018 (NNF18OC0052457, to TSA and MS), Heisenberg Professorship of the German Research Foundation (KO 3598/5-1, to AK), Deutsche Forschungsgemeinschaft (DFG) Collaborative Research Centre (SFB) KIDGEM 1140 (project 246781735, to CB), and Federal Ministry of Education and Research (BMB) (01GM1515C, to CB). [ABSTRACT FROM AUTHOR]

Published
2020
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