Article
Pediatrics
Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Liao
Summary: This study aimed to analyze the clinical characteristics of nephropathy associated with WT1 gene mutations in Chinese children and explore the relationship between genotype and clinical phenotype. The findings revealed a strong correlation between WT1 gene mutations and the development and clinical features of nephropathy.
FRONTIERS IN PEDIATRICS
(2023)
Review
Urology & Nephrology
Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Takayuki Okamoto, Kandai Nozu
Summary: This study systematically reviewed LAMB2-associated diseases, characteristics of LAMB2 nephropathy, and genotype-phenotype correlations, revealing a diversity of disease phenotypes and their associations with different gene variants.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Oncology
Shao-Yu Zhang, Qingfeng Fan, Anissa Moktefi, Virginie Ory, Vincent Audard, Andre Pawlak, Mario Ollero, Dil Sahali, Carole Henique
Summary: The study revealed that overproduction of CMIP in podocytes is associated with a downregulation of WT1 via two mechanisms. CMIP prevents the NF-kB-mediated transcriptional activation of WT1 and interacts with WT1 directly through its leucine-rich repeat domain. The E3 ligase activity of CMIP targets WT1 for proteasome degradation, suggesting a potential therapeutic target for podocyte diseases.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Article
Infectious Diseases
Xiujiao Xia, Zehu Liu, Hong Shen
Summary: A woman with nephrotic syndrome developed purulent infiltrating plaques on her hands and arms, and was diagnosed with subcutaneous phaeohyphomycosis caused by Alternaria section Alternaria. Antifungal treatment led to complete resolution of the lesions after 2 months. The case report emphasizes the difficulty in distinguishing subcutaneous phaeohyphomycosis from chromoblastomycosis based solely on pathological findings and highlights the variation of parasitic forms of dematiaceous fungi in immunosuppressed hosts with different sites and environments.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Biochemistry & Molecular Biology
Jinal M. Thakor, Glory Parmar, Kinnari N. Mistry, Sishir Gang, Dharamshibhai N. Rank, Chaitanya G. Joshi
Summary: Through genetic mutation analysis of Indian patients, pathogenic and likely pathogenic mutations were found in nephrotic syndrome, with a focus on the LAMB2 gene. Mutational analysis of SSNS and SRNS is crucial for avoiding adverse effects of corticosteroids and preventing disease progression.
MOLECULAR BIOLOGY REPORTS
(2021)
Review
Genetics & Heredity
Lisa Gianesello, Jennifer Arroyo, Dorella Del Prete, Giovanna Priante, Monica Ceol, Peter C. Harris, John C. Lieske, Franca Anglani
Summary: Dent disease is a rare X-linked renal tubulopathy caused by CLCN5 and OCRL mutations, distinct from Lowe syndrome. Research shows that 39% of DD2 patients present with at least one extra-renal symptom, with muscle findings being the most common.
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
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Summary: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. This study analyzed 15 patients from three families and found that different phenotypes were caused by different CYP21A2 mutations. Gender and mutation type influence the phenotypes, and genetic analysis can aid in the diagnosis of atypical 21-hydroxylase deficiency patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Multidisciplinary Sciences
Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga
Summary: This study reveals phenotypic and genetic differences between patients with typical and atypical BOR syndrome. Four novel EYA1 P/LP variants were identified in atypical BOR syndrome patients. The presence of branchial anomaly, inner ear anomaly, and mixed hearing loss is correlated with P/LP variants. The development of refined diagnostic criteria and phenotypic indices will aid in the effective detection of patients with P/LP variants among those suspected of having BOR syndrome.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Guilaine Boursier, Cecile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou
Summary: Mevalonate kinase-associated diseases (MKAD) encompass various rare and hereditary autoinflammatory conditions caused by pathogenic mutations in the mevalonate kinase gene. Study findings suggest a potential correlation between genotypes and clinical subtypes or severe manifestations of MKAD, indicating that different genotypes may be associated with varying degrees of severity.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Pediatrics
Yung-Chieh Huang, Ming-Chin Tsai, Chi-Ren Tsai, Lin-Shien Fu
Summary: Frasier syndrome is a rare genetic disease that affects the kidneys and genitalia, causing nephrotic syndrome resistant to steroid treatment. It is caused by mutations in the splice donor site of the WT1 gene, leading to an imbalance in WT1 protein isoforms and impacting podocyte function and tumor suppression. The syndrome can also result in pseudohermaphroditism in male patients and development of gonadoblastoma in adolescence.
Article
Urology & Nephrology
China Nagano, Yutaka Takaoka, Koichi Kamei, Riku Hamada, Daisuke Ichikawa, Kazuki Tanaka, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yurika Tsuji, Yuko Noguchi, Shingo Hiroaki Nagase, Takeshi Ninchoji, Kazumoto Iijima, Kandai Nozu
Summary: A systematic review and functional analysis of missense mutations in WT1 exon 8 or 9 revealed that mutations at the DNA-binding site and C2H2 zinc finger structure sites are associated with more severe clinical symptoms, leading to early progression to end-stage kidney disease. Variants at these sites showed dominant-negative effects and significantly lower WT1 transcriptional activity compared to other mutations.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Genetics & Heredity
Sarah C. Gruenert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko, Ute Spiekerkoetter, Rene Santer
Summary: Fanconi-Bickel syndrome is a rare clinical entity characterized by hepatic glycogen storage disease and renal tubular dysfunction. Research on patients with GLUT2 gene variants shows a correlation between genotype and clinical presentation, with functional variants leading to milder symptoms.
Article
Genetics & Heredity
Jeremy Dana, Guillaume Dorval, Christine Saint Martin, Kahina Belhous, Raphael Levy, Sandrine Marlin, Isabelle De Bie, Manon Mautret-Godefroy, Antonio Rausell, Marlene Rio, Elise Boucher-Brischoux, Tania Attie-Bitach, Nathalie Boddaert, Veronique Pingault
Summary: A retrospective cohort study was conducted to establish the genotype-phenotype correlation for CHD7-related CHARGE syndrome through unsupervised machine learning and clustering of 42 patients. Three clusters with different severities of phenotypes were identified. One patient with the most atypical phenotype and the most distal frameshift variant stood out in the third cluster. Two other patients with similar distal pathogenic variants showed tendencies towards mild and/or atypical phenotypes. These findings suggest that the milder phenotypes may result from the production of a protein retaining all functional domains, rather than escaping nonsense mediated RNA decay.
Review
Pediatrics
Charles D. Varnell, Peter Margolis, Jens Goebel, David K. Hooper
Summary: Learning health systems integrate clinical care, improvement, and research to continuously improve pediatric nephrology care.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Anar Gurbanov, Bora Gulhan, Baris Kuskonmaz, Fatma Visal Okur, Fatih Ozaltin, Ali Duzova, Duygu Uckan Cetinkaya, Rezan Topaloglu
Summary: This study aimed to determine the incidence of kidney complications in pediatric allogeneic hematopoietic stem cell transplantation patients. The results showed a higher incidence of acute kidney injury, with primary malignant disease and viral infection being associated with an increased risk. Additionally, 24-hour ambulatory blood pressure monitoring played an important role in monitoring hypertension in these patients.
PEDIATRIC NEPHROLOGY
(2023)
Review
Pediatrics
Tugba Tastemel Ozturk, Nur Canpolat, Seha Saygili, Umut Selda Bayrakci, Oguz Soylemezoglu, Fatih Ozaltin, Rezan Topaloglu
Summary: Patients with SGPL1 mutations have a poor prognosis, and may exhibit involvement of various organs/systems beyond adrenal insufficiency.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Agnes Trautmann, Svenja Seide, Beata S. Lipska-Zietkiewicz, Fatih Ozaltin, Maria Szczepanska, Marta Azocar, Augustina Jankauskiene, Alexandra Zurowska, Salim Caliskan, Bassam Saeed, William Morello, Francesco Emma, Mieczyslaw Litwin, Alexey Tsygin, Svitlana Fomina, Anna Wasilewska, Anette Melk, Elisa Benetti, Jutta Gellermann, Natasa Stajic, Marcin Tkaczyk, Sergey Baiko, Larisa Prikhodina, Dagmar Csaicsich, Anna Medynska, Regina Krisam, Heike Breitschwerdt, Franz Schaefer
Summary: This study observed children with steroid-resistant nephrotic syndrome who were not treated with intensified immunosuppression. It found that a portion of patients with non-genetic SRNS can achieve spontaneous complete remission, while complete resolution of proteinuria is rare in patients with genetic SRNS. Treatment with renin-angiotensin-aldosterone system antagonists increases the likelihood of partial remission of proteinuria in all forms of SRNS.
PEDIATRIC NEPHROLOGY
(2023)
Letter
Pediatrics
Seha Saygili, Salim Caliskan, Fatih Ozaltin
PEDIATRIC NEPHROLOGY
(2023)
Article
Transplantation
Carla Burballa, Gerard Cantero-Recasens, Larisa Prikhodina, Francesca Lugani, Karlpeter Schlingmann, Petr Ananin, Martine Besouw, Detlef Bockenhauer, Leire Madariaga, Aurelia Bertholet-Thomas, Francesca Taroni, Mattia Parolin, Peter Conlon, Francesco Emma, Dorella Del Prete, Dominique Chauveau, Linda Koster-Kamphuis, Marc Fila, Andrea Pasini, Isabel Castro, Giacomo Colussi, Marta Gil, Barian Mohidin, Tanja Wlodkowski, Franz Schaefer, Gema Ariceta
Summary: DD1 is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction. Current management is symptomatic and does not prevent disease progression. This study investigated the clinical features and mutation spectra of DD1 patients in Europe, highlighting the unmet needs in diagnosis and treatment.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Pediatrics
Mallory L. Downie, Sanjana Gupta, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Jingjing Cao, Rulan S. Parekh, Carmen Bugarin Diz, Agnieszka Bierzynska, Adam P. Levine, Ruth J. Pepper, Horia Stanescu, Moin A. Saleem, Robert Kleta, Detlef Bockenhauer, Ania B. Koziell, Daniel P. Gale
Summary: A genetic risk score can help classify patients with INS presenting in different ways when monogenic causes are excluded.
PEDIATRIC NEPHROLOGY
(2023)
Review
Urology & Nephrology
Naima Smeulders, Alexander Cho, Abdulelah Alshaiban, Katharine Read, Aisling Fagan, Marina Easty, Kishore Minhas, Alex Barnacle, Wesley Hayes, Detlef Bockenhauer
Summary: Urinary stone disease is common in adults but rare in children. Children with stone disease require specialized treatment due to their unique characteristics.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Urology & Nephrology
Elizabeth R. Wan, Daniela Iancu, Emma Ashton, Keith Siew, Barian Mohidin, Chih-Chien Sung, China Nagano, Detlef Bockenhauer, Shih-Hua Lin, Kandai Nozu, Stephen B. Walsh
Summary: It is difficult to clinically distinguish patients with inherited salt-losing tubulopathies (SLTs), such as Gitelman syndrome (GS) or Bartter syndrome (BS), from other causes of hypokalemia (LK), and genotyping is expensive. This study aimed to identify clinical characteristics that differentiate SLTs from LK. The findings showed that serum bicarbonate and urinary sodium excretion (FENa) could accurately differentiate SLTs from LK.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Urology & Nephrology
Mallory L. Downie, Sanjana Gupta, Catalin Voinescu, Adam P. Levine, Omid Sadeghi-Alavijeh, Stephanie Dufek-Kamperis, Jingjing Cao, Martin Christian, Jameela A. Kari, Shenal Thalgahagoda, Randula Ranawaka, Asiri Abeyagunawardena, Rasheed Gbadegesin, Rulan Parekh, Robert Kleta, Detlef Bockenhauer, Horia C. Stanescu, Daniel P. Gale
Summary: This study aimed to identify additional genetic loci associated with steroid-sensitive nephrotic syndrome (SSNS) in children. Through genome-wide association studies, the researchers found associations between the HLA-DQ/DR and AHI1 genes with SSNS. The AHI1 gene is involved in ciliary protein transport and immune dysregulation.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Genetics & Heredity
Seha Saygili, Can Kosukcu, Turgut Bastug, Ozlem Akgun Dogan, Esra Karabag Yilmaz, Ayse Ucar Kalyoncu, Ayse Agbas, Nur Canpolat, Salim Caliskan, Fatih Ozaltin
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) is a major cause of chronic kidney disease before the age of 30. More than 180 monogenic causes and copy number variants (CNV) have been identified, but they only explain a small fraction of CAKUT patients. In this study, a homozygous variant in TBC1D31 was identified using whole-exome sequencing and predicted to be pathogenic through protein modeling and molecular dynamics simulations. This is the first evidence of an association between a homozygous TBC1D31 variant and CAKUT in humans, expanding the genetic spectrum of the disease.
Article
Genetics & Heredity
Nikolai Tschernoster, Florian Erger, Stefan Kohl, Bjoern Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Koemhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nuernberg, Markus M. Rinschen, Jan H. Driller, Bjorn P. Pedersen, Karl P. Schlingmann, Bruno Huettel, Detlef Bockenhauer, Bodo Beck, Janine Altmueller
Summary: In this study, long-read sequencing was used to analyze the structural variants in patients with Bartter syndrome type 3. A previously unknown common haplotype, which may predispose to additional events, was found to be significantly enriched in the patients with CLCNKB deletions. The spectrum of CLCNKB deletion alleles is broader than expected and likely still incomplete.
Meeting Abstract
Transplantation
Marta Giaccari, Dieter Haffner, Franz Schaefer, Gema Ariceta, Detlef Bockenhauer, Francesco Emma
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Meeting Abstract
Pediatrics
Koenraad Veys, Katharina Hohenfellner, Detlef Bockenhauer, Patrick Niaudet, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Lars Pape, Elke Wuehl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Elena Levtchenko
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Ozum Tutal, Bora Gulhan, Emine Atayar, Selcuk Yuksel, Z. Birsin Ozcakar, Oguz Soylemezoglu, Seha Saygili, Salim Caliskan, Mihriban Inozu, Esra Baskin, Ali Duzova, Mutlu Hayran, Rezan Topaloglu, Fatih Ozaltin
Summary: This study aimed to identify the clinical and genetic features of Turkish pediatric patients with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD). The results showed that ARPKD patients had a lower median age at diagnosis and lower median eGFR compared to ADPKD patients. ARPKD patients had higher rates of malnutrition, growth retardation, and hypertension at diagnosis, and these factors were associated with progression to Chronic Kidney Disease (CKD).