Article
Pediatrics
Peter Sloane, Janel Darcy Hunter, Jen-Jar Lin, Ashton Chen
Summary: This case report describes a pediatric patient with NPS who presented with kidney failure, hypothyroidism, and type 1 diabetes mellitus. Whole exome sequencing revealed a mutation in the LMX1B gene, which may be responsible for the patient's conditions. The patient underwent a simultaneous kidney-pancreas transplantation and achieved normal kidney function and euglycemia without insulin therapy at 1 year post-transplant.
PEDIATRIC NEPHROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Julian E. Alecu, Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi-Fakhari
Summary: This study systematically investigates the molecular and phenotypic spectrum of HSP-ATL1 and identifies a distinct phenotype observed in patients with de novo variants. The researchers establish genotype-phenotype correlations and find that variants located within a mutational cluster are associated with extended symptoms.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Lilas Batool, Krithika Hariharan, Yao Xu, Mario Kassmann, Dmitry Tsvetkov, Bjoern-Oliver Gohlke, Sylvia Kaden, Manfred Gossen, Bernd Nuernberg, Andreas Kurtz, Maik Gollasch
Summary: Mutations in TRPC6 gene cause familial focal segmental glomerulosclerosis (FSGS) and are inherited dominantly. Majority of TRPC6 mutations result in missense changes affecting calcium influx; however, the underlying molecular mechanisms for cell injury and kidney pathology remain unclear. A novel TRPC6 mutation (V691Kfs*) was identified in a large kindred without FSGS despite truncated TRPC6 protein. Functional studies showed that V691Kfs* mutation leads to closure of ion-conducting pathway and fully inactivates the TRPC6 channel-specific calcium influx, suggesting a complete loss-of-function phenotype. This study emphasizes the importance of increased calcium influx through TRPC6 for podocyte cell death.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Oncology
Elio Adib, Talal El Zarif, Amin H. Nassar, Elie W. Akl, Sarah Abou Alaiwi, Tarek H. Mouhieddine, Edward D. Esplin, Kathryn Hatchell, Sarah M. Nielsen, Huma Q. Rana, Toni K. Choueiri, David J. Kwiatkowski, Guru Sonpavde
Summary: This study mapped the landscape of P/LP germline variants in the CDH1 gene across various cancers and ethnicities. The results showed significant enrichment of CDH1 P/LP variants in patients with CSRCC, DGC, and LBC across different ethnicities. Future prospective studies are needed to further validate these findings.
BRITISH JOURNAL OF CANCER
(2022)
Article
Multidisciplinary Sciences
Suramath Isaranuwatchai, Ankanee Chanakul, Chupong Ittiwut, Rungnapa Ittiwut, Chalurmpon Srichomthong, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Kearkiat Praditpornsilpa
Summary: The spectra of underlying genetic variants for FSGS vary among different populations. A study on biopsy-proven FSGS patients in Thailand identified disease-associated pathogenic/likely pathogenic variants in 11.3% of the cases. Genetic testing before treatment was found to be important to avoid unnecessary treatment.
SCIENTIFIC REPORTS
(2023)
Article
Urology & Nephrology
Ana Maria Tato, Noa Carrera, Maria Garcia-Murias, Amir Shabaka, Ana Avila, Maria Teresa Mora Mora, Cristina Rabasco, Karina Soto, Francisco Jose de la Prada Alvarez, Loreto Fernandez-Lorente, Antolina Rodriguez-Moreno, Ana Huerta, Carmen Mon, Clara Garcia-Carro, Fayna Gonzalez Cabrera, Juan Antonio Martin Navarro, Ana Romera, Eduardo Gutierrez, Javier Villacorta, Alberto de Lorenzo, Beatriz Aviles, Miguel Angel Garca-Gonzalez, Gema Fernandez-Juarez, GLOSEN group
Summary: The frequency and distribution of genetic variants in patients with SRNS-FSGS and FSGS-UC were determined in this study. The results showed that genetic variants related to FSGS were detected regardless of the age of onset or family history of the disease. Therefore, genetic testing should be performed for patients with SRNS-FSGS or FSGS-UC, regardless of age or family history.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Urology & Nephrology
Poornima Vijayan, Saidah Hack, Tony Yao, Mohammad Azfar Qureshi, Andrew D. Paterson, Rohan John, Bernard Davenport, Rachel Lennon, York Pei, Moumita Barua
Summary: This study investigated the genetic causes of adult-onset focal and segmental glomerulosclerosis in a family, identifying heterozygous variants in the LAMA2 and LOXL4 genes through whole exome sequencing. The additive effect of these variants is postulated to lead to the development of FSGS in adults. Future research is needed to further explore the role of these genes in the pathogenesis of FSGS.
Article
Genetics & Heredity
Michaela Stippel, Korbinian M. Riedhammer, Barbel Lange-Sperandio, Michaela Gessner, Matthias C. Braunisch, Roman Gunthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Summary: This study investigated the presence of skeletal anomalies as an extrarenal manifestation in individuals with hereditary podocytopathies, ciliopathies or CAKUT, finding that 12% of the cohort presented with both kidney disease and additional skeletal phenotypes. Pathogenic variants in known disease-associated genes were identified in 63% of these cases, highlighting the genetic heterogeneity and clinical variability of hereditary nephropathies.
FRONTIERS IN GENETICS
(2021)
Editorial Material
Clinical Neurology
Tian-fang Zeng, Xin Ding, Dan Yang, Chang-Chuan Wu, Dan-Dan Xie, Wen-Min Zhang
Summary: This is a case of a 26-year-old woman who experienced recurrent episodes of severe pain, weakness, and atrophy in her bilateral upper extremities during pregnancy and puerperium. She had 2 similar previous episodes at ages 5 and 10 years. Clinical examination and electromyography revealed neurogenic damage in her bilateral upper limbs, suggesting a brachial plexopathy. Evaluation was done for metabolic, immune, paraneoplastic, neoplastic, and genetic factors. The case highlights the importance of early diagnosis and trigger avoidance.
Review
Biochemistry & Molecular Biology
Yiting Zhao, Hui Zhang, Haibiao Wang, Meng Ye, Xiaofeng Jin
Summary: INF2 is an atypical formin protein associated with kidney disease and various cancers, playing different roles as either a tumor suppressor or oncogene. Studies on the molecular mechanisms underlying INF2's diverse roles in different cancers are limited.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Dermatology
Sabine Jaegle, Hao-Hsiang Hsu, Hazem A. Juratli, Andreas D. Zimmer, Amelie Prieschl, Svenja Alter, Bernhard Wiedenhofer, Dieter Metze, Steffen Emmert, Judith Fischer
Summary: By analyzing a cohort of 5 HLP patients, rare variants in the SPTLC1 gene were identified as the genetic cause of HLP. The detected variants were frameshift or splicing variants, leading to reduced SPTLC1 protein levels. Diminished SPTLC1, the key enzyme in sphingolipid biosynthesis, contributes to the development of HLP.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Clinical Neurology
Michael Zech, Robert Kopajtich, Katja Steinbruecker, Celine Bris, Naig Gueguen, Rene G. Feichtinger, Melanie T. Achleitner, Neslihan Duzkale, Maximilien Perivier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J. T. Rodenburg, Lynn S. Pais, Christina Austin-Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C. Kruer, Saskia B. Wortmann, Matthias Eckenweiler, Johannes A. Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
Summary: This study identified novel phenotypes associated with mutations in ATPase subunits, expanding the understanding of ATPase-related diseases. The clinical manifestations of patients with ATPase defects varied, ranging from mild hypotonia to severe epilepsy and developmental delays. Dystonia was a common feature in the affected individuals.
ANNALS OF NEUROLOGY
(2022)
Article
Endocrinology & Metabolism
Hillevi Lindelof, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Giedre Grigelioniene, Anna Hammarsjo
Summary: Nail-patella syndrome is a rare autosomal dominant disorder that affects multiple parts of the body. This study reports a family with an inversion disrupting the LMX1B gene in five affected family members.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Editorial Material
Medicine, Research & Experimental
Rodger A. Liddle
Summary: Chronic pancreatitis caused by pancreatic inflammation leads to ongoing pain and dysfunction of the pancreas. A potential clinical treatment strategy involves ablating pancreatic acinar cells to prevent self-digestion and reduce inflammation. This approach has shown promising results in mouse and nonhuman primate models by preserving islet cell function and reducing pain.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Medicine, General & Internal
Yuji Oe, Eikan Mishima, Takayasu Mori, Koji Okamoto, Yohei Honkura, Tasuku Nagasawa, Mai Yoshida, Hiroshi Sato, Jun Suzuki, Ryoukichi Ikeda, Eisei Sohara, Shinichi Uchida, Yukio Katori, Mariko Miyazaki
Summary: A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. Genetic testing identified a novel missense mutation in LMX1B, expanding the disease spectrum of LMX1B-associated nephropathy. The case was diagnosed as LMX1B-associated nephropathy presenting with an Alport syndrome-like phenotype.
Article
Transplantation
Sergio C. Lopez-Garcia, Mallory L. Downie, Ji Soo Kim, Olivia Boyer, Stephen B. Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, Ben C. Reynolds, Stephane Decramer, Martine Besouw, Manel Perello Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurelie Hummel, Claire Dossier, John A. Sayer, Martin Konrad, Mandy G. Keijzer-Veen, Atif Awan, Biswanath Basu, Dominique Chauveau, Leire Madariaga, Linda Koster-Kamphuis, Monica Furlano, Miriam Zacchia, Pierluigi Marzuillo, Yincent Tse, Ismail Dursun, Ayse Seda Pinarbasi, Despoina Tramma, Ewout J. Hoorn, Ibrahim Gokce, Kathleen Nicholls, Loai A. Eid, Lisa Sartz, Michael Riordan, Nakysa Hooman, Nikoleta Printza, Olivier Bonny, Pedro Arango Sancho, Raphael Schild, Rajiv Sinha, Stefano Guarino, Victo Martinez Jimenez, Lidia Rodriguez Pena, Hendrica Belge, Olivier Devuyst, Tanja Wlodkowski, Francesco Emma, Elena Levtchenko, Nine V. A. M. Knoers, Daniel G. Bichet, Franz Schaefer, Robert Kleta, European NDI Consortium, Detlef Bockenhauer
Summary: The study of a large NDI cohort showed overall favorable outcomes with normal adult height and mild to moderate chronic kidney disease. However, lower educational achievement and the presence of urological and mental health problems in over half of the patients were noted.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Urology & Nephrology
Aurelia Bertholet-Thomas, Maria A. Manso-Silvan, Victor Navas-Serrano, Catherine Guittet, Sophie Joukoff, Justine Bacchetta, Olivia Boyer, Mariano Rodriguez Portillo, Luc-Andre Granier
Summary: ADV7103 treatment for dRTA improves bone parameters and promotes growth.
Article
Pharmacology & Pharmacy
Camille de Truchis, Naim Bouazza, Frantz Foissac, Marina Charbit, Laurene Dehoux, Gabrielle Lui, Megane Ribot, Nelly Briand, Yi Zheng, Jean-Marc Treluyer, Olivia Boyer
Summary: This study aimed to build a population pharmacokinetics model of free prednisolone in paediatric kidney transplant recipients, identify covariates accounting for interindividual variability of pharmacokinetics parameters, and investigate drug exposure-safety relationships. The results showed that bodyweight and ciclosporin cotreatment influenced the pharmacokinetics of prednisolone, and high blood pressure and new onset diabetes after transplantation were associated with daily prednisolone exposure.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Article
Genetics & Heredity
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
Summary: Whole-genome sequencing allows identification of multiple variants in non-coding regions, but the interpretation of these variants is complicated due to their large number. This study compares three different tools, including a newly developed targeted RNA sequencing, to explore the splicing effect of intronic variations in the NPHS2 gene, which is implicated in a genetic disorder.
Article
Urology & Nephrology
Georgia Malakasioti, Daniela Iancu, Anastasiia Milovanova, Alexey Tsygin, Tomoko Horinouchi, China Nagano, Kandai Nozu, Koichi Kamei, Shuichiro Fujinaga, Kazumoto Iijima, Rajiv Sinha, Biswanath Basu, William Morello, Giovanni Montini, Aoife Waters, Olivia Boyer, Zeynep Yuruk Yildirim, Sibel Yel, Ismail Dursun, Hugh J. McCarthy, Marina Vivarelli, Larisa Prikhodina, Martine T. P. Besouw, Eugene Yu-hin Chan, Wenyan Huang, Markus J. Kemper, Sebastian Loos, Chanel Prestidge, William Wong, Galia Zlatanova, Rasmus Ehren, Lutz T. Weber, Hassib Chehade, Nakysa Hooman, Marcin Tkaczyk, Malgorzata Stanczyk, Michael Miligkos, Kjell Tullus
Summary: A retrospective study was conducted on 203 cases of children with monogenic steroid-resistant nephrotic syndrome (SRNS) treated with a calcineurin inhibitor (CNI). The study found that a partial or full response was observed in a significant percentage of patients. Patients with higher serum albumin levels at the initiation of CNI treatment were more likely to achieve significant remission. These findings support the use of CNI treatment in children with monogenic SRNS.
KIDNEY INTERNATIONAL
(2023)
Article
Medicine, Research & Experimental
Olivia Boyer, Geraldine Mollet, Guillaume Dorval
Summary: Genetic studies have identified many genes involved in the development of hereditary podocytopathies associated with steroid-resistant nephrotic syndrome (SRNS). Syndromic SRNS can be accompanied by neurological disorders, and there is a link between podocyte and neuronal cells at both morphological and functional levels. Variations in genes encoding proteins in podocytes and neurons contribute to the phenotypes associating renal lesions with proteinuria and neurological disorders. This review focuses on the genetic syndromes that associate proteinuria and neurological diseases and presents the latest advances in understanding these neuro-renal disorders.
M S-MEDECINE SCIENCES
(2023)
Editorial Material
Medicine, Research & Experimental
Guillaume Dorval, Olivia Boyer
M S-MEDECINE SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Daniel Yoo, Valentin Goutaudier, Gillian Divard, Juliette Gueguen, Brad C. Astor, Olivier Aubert, Marc Raynaud, Zeynep Demir, Julien Hogan, Patricia Weng, Jodi Smith, Rouba Garro, Bradley A. Warady, Rima S. Zahr, Marta Sablik, Katherine Twombley, Lionel Couzi, Thierry Berney, Olivia Boyer, Jean-Paul Duong-Van-Huyen, Magali Giral, Alaa Alsadi, Pierre A. Gourraud, Emmanuel Morelon, Moglie Le Quintrec, Sophie Brouard, Christophe Legendre, Dany Anglicheau, Jean Villard, Weixiong Zhong, Nassim Kamar, Oriol Bestard, Arjang Djamali, Klemens Budde, Mark Haas, Carmen Lefaucheur, Marion Rabant, Alexandre Loupy
Summary: Researchers developed a decision-support system based on an algorithm to automatically assign kidney allograft diagnoses, which successfully reclassified rejection cases and improved long-term allograft outcomes.
Article
Pediatrics
Aleksandra Zurowska, Magdalena Drozynska-Duklas, Rezan Topaloglu, Antonia Bouts, Olivia Boyer, Mohan Shenoy, Marina Vivarelli
Summary: There is limited information on the association between rituximab and hypogammaglobulinemia (HGG) in children with idiopathic nephrotic syndrome (INS). A survey showed that most pediatric nephrology units have different practices in recognizing and managing RTX-associated HGG and its morbidity and mortality. HGG was observed in 80% of children with severe infections, highlighting the need for mandatory screening for HGG in children treated with RTX.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Bellaure Ndoudi Likoho, Romain Berthaud, Claire Dossier, Jean-Daniel Delbet, Olivia Boyer, Veronique Baudouin, Marianne Alison, Valerie Biran, Marie-Francoise Hurtaud, Julien Hogan, Theresa Kwon, Anne Couderc
Summary: This study retrospectively analyzed newborns diagnosed with neonatal renal vein thrombosis (NRVT) in three pediatric nephrology units in Paris from 2005 to 2020. The study found that NRVT is a rare condition that can be diagnosed by ultrasound. Treatment options include low molecular weight heparin, unfractionated heparin, and fibrinolysis. Complications observed during follow-up include kidney abnormalities, kidney atrophy, hypertension, chronic kidney disease, and proteinuria.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Anne-Lise Mary, Stephanie Clave, Caroline Rousset-Rouviere, Etienne Berard, Olivia Boyer, Stephane Decramer, Marc Fila, Vincent Guigonis, Sylvie Cloarec, Jerome Harambat, Julien Hogan, Annie Lahoche, Gwenaelle Roussey-Kesler, Ariane Zaloszyc, Tim Ulinski, Cyrielle Parmentier, Jean-Daniel Delbet
Summary: This study aimed to assess the role of steroids on the outcome of IgA vasculitis with nephritis (IgAVN). The results showed that the efficacy of oral steroids alone and methylprednisolone pulses could not be established. Randomized controlled trials are needed to determine the effectiveness of steroids in IgAVN.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Nathalie Biebuyck, Camille Destombes, Richa Prakash, Olivia Boyer
Summary: Primary hyperoxaluria type 1 is a rare genetic disorder caused by mutations in the AGXT gene, leading to the accumulation of oxalate in the kidneys. Liver-kidney transplantation is the main treatment option, but lumasiran, an RNA-interfering therapy, has shown positive outcomes in recent studies.
JOURNAL OF NEPHROLOGY
(2023)
Proceedings Paper
Computer Science, Interdisciplinary Applications
Sophie Quennelle, Maxime Douillet, Lisa Friedlander, Olivia Boyer, Antoine Neuraz, Anita Burgun, Nicolas Garcelon
Summary: In medical research, traditional data collection methods such as browsing patient files have been shown to have biases, errors, human labor and costs. The study proposes a semi-automated system that can extract various types of data and pre-fill clinical research forms based on rules. A cross-testing experiment comparing semi-automated and manual data collection showed that the Smart Data Extractor reduced form completion time and errors.
CARING IS SHARING-EXPLOITING THE VALUE IN DATA FOR HEALTH AND INNOVATION-PROCEEDINGS OF MIE 2023
(2023)
Review
Medicine, General & Internal
Marina Vivarelli, Keisha Gibson, Aditi Sinha, Olivia Boyer
Summary: Idiopathic nephrotic syndrome is the most common glomerular disease in children, and corticosteroids are the main treatment. The response to steroids is a key prognostic factor. Multidrug resistant nephrotic syndrome may lead to kidney failure and relapse after kidney transplant.
Article
Urology & Nephrology
Marwa Chbihi, Laurye-Anne Eveillard, Quentin Riller, Romain Brousse, Romain Berthaud, Pierre Quartier, Remi Salomon, Marina Charbit, Marina Avramescu, Nathalie Biebuyck, Laurene Dehoux, Nicolas Garcelon, Jean-Paul Duong-Van-Huyen, Brigitte Bader-Meunier, Olivia Boyer
Summary: This study compared the efficacy and tolerance of CYC and MMF as induction therapy for class IV LN in children. The results showed no significant difference in complete remission and relapse rates between the two groups, as well as in the number of treatment-related adverse events. However, long-term adverse events such as infertility could not be systematically evaluated in this retrospective pediatric study.
JOURNAL OF NEPHROLOGY
(2023)