Article
Transplantation
Francesco Trepiccione, Steven B. Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepanska, Velibor Tasic, Rezan Topaloglu, Rosa Vargas-Poussou, Tanja Wlodkowski, Detlef Bockenhauer
Summary: Distal renal tubular acidosis (dRTA) is a rare metabolic disorder characterized by impaired acid excretion leading to complications such as bone disease and growth failure. Adequate metabolic control with alkali supplementation is crucial, but there are challenges with treatment adherence among patients.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Health Care Sciences & Services
Maxime Ilzkovitz, Elikyah Esther Kayembe, Caroline Geers, Agnieszka Pozdzik
Summary: This study reported a rare case of kidney stone disease in an Indian woman with a strong association with Sjogren syndrome, highlighting the importance of autoimmune screening in the diagnosis of such conditions.
Article
Medical Laboratory Technology
Nontembiso Mhlana, Marizna Korf, Mogamat Razeen Davids, Mogamat-Yazied Chothia
Summary: Renal tubular acidosis (RTA) is a rare disorder that affects the kidney's ability to maintain acid-base balance. We present a case of a young woman with recurrent hypokalemia and rhabdomyolysis, who was diagnosed with distal RTA associated with Hashimoto's thyroiditis. This rare form of RTA is likely caused by autoimmune mechanisms that impair the secretion of H+ in the cortical collecting duct.
Article
Pediatrics
Jessica M. Forero-Delgadillo, Helena Gil-Pena, Marta Alonso-Varela, Fernando Santos
Summary: This study confirms the risk of kidney function reduction in pediatric patients with DRTA, indicating that low GFR is associated with less favorable growth outcomes and revealing the high frequency of low birth weight in primary DRTA, a previously unrecognized feature.
PEDIATRIC NEPHROLOGY
(2021)
Article
Physiology
Viola D'Ambrosio, Alessia Azzara, Eugenio Sangiorgi, Fiorella Gurrieri, Bernhard Hess, Giovanni Gambaro, Pietro Manuel Ferraro
Summary: This study investigated stone formers suspected of having incomplete distal renal tubular acidosis (idRTA) and found impaired urinary acidification ability in these patients. Genetic testing revealed new variants in the SLC4A1 gene, suggesting the involvement of other genes or non-genetic factors in the pathogenesis of idRTA. Non-genetic tubular dysfunction may play a role in idRTA, and genetic testing could be a cost-effective tool for diagnosis and treatment in these patients.
KIDNEY & BLOOD PRESSURE RESEARCH
(2021)
Review
Pediatrics
Fernando Santos, Helena Gil-Pena
Summary: This article reviews the clinical manifestations and complications of primary distal renal tubular acidosis. The disease is caused by a genetic defect that persists throughout life and often begins in childhood. The paper focuses on the pathogenic factors responsible for kidney failure, emphasizing the importance of maintaining optimal metabolic control of the disease and regular clinical follow-up.
PEDIATRIC NEPHROLOGY
(2023)
Review
Urology & Nephrology
Carsten A. Wagner, Robert Unwin, Sergio C. Lopez-Garcia, Robert Kleta, Detlef Bockenhauer, Stephen Walsh
Summary: This review discusses the underlying genetic and acquired causes of distal renal tubular acidosis (dRTA), a condition characterized by the failure to acidify urine below pH 5.5. Inherited forms of dRTA are caused by variants in specific genes such as SLC4A1 and ATP6V1B1, while acquired forms can result from autoimmune diseases or adverse drug effects. Incomplete dRTA, which is frequently found in patients with or without kidney stone disease, may represent an intermediate state in the ability to excrete acids. Untreated or unrecognized dRTA can lead to various complications such as rickets, osteomalacia, nephrolithiasis, and electrolyte disorders, and increase the risk of chronic kidney disease development.
NATURE REVIEWS NEPHROLOGY
(2023)
Article
Medicine, General & Internal
Nidhi Kaeley, Anand M. Gangdev, Soumya Subhra Datta, Utkarsh P. Singh
Summary: Sjogren's syndrome is an autoimmune disorder characterized by dysfunction of exocrine glands due to inflammation caused by lymphocytic infiltration. It commonly affects the lacrimal and salivary glands, and can also present with systemic symptoms and renal tubular acidosis. Hypokalemia is the most prevalent electrolyte disorder in patients with distal RTA.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Dentistry, Oral Surgery & Medicine
Piranit Kantaputra, Yeliz Guven, Bagdagul Aksu, Tugba Kalayci, Cezmi Dogan, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Kajohnsak Noppakun
Summary: Background. Mutations in the SLC4A4 gene have been associated with proximal renal tubular acidosis (RTA), short stature, band keratopathy, cataract, glaucoma, and hypoplastic-type amelogenesis imperfecta. In this study, the authors describe the clinical manifestations and molecular etiology of a patient with distal RTA. Case Description. The authors report on a girl with distal RTA who carried a novel homozygous base substitution in the SLC4A4 gene. The patient exhibited clinical manifestations of autoimmune thyroiditis and distal RTA, as well as enamel hypomaturation and pulp stones. The study highlights the importance of dentists recognizing that amelogenesis imperfecta may be indicative of underlying systemic diseases such as RTA, nephrocalcinosis, or nephrolithiasis.
JOURNAL OF THE AMERICAN DENTAL ASSOCIATION
(2022)
Article
Medicine, Research & Experimental
Lihong Zhang, Bei Xu, Ya Niu, Yajuan Wang, Hui Tang
Summary: This report discusses a case of familial distal renal tubular acidosis (dRTA) in two sisters from China, a rare disorder that can be transmitted through autosomal dominant and recessive inheritance.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2021)
Article
Pediatrics
Menka Yadav, Aditi Sinha, Pankaj Hari, Arvind Bagga
Summary: Monogenic defects in tubular sodium handling account for a small proportion of hypertension cases in childhood, with symptoms ranging from severe hypertension to asymptomatic hypertension. Treatment with spironolactone can effectively resolve hypokalemia and restore normal blood pressure levels.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Review
Biochemistry & Molecular Biology
Oana Ungureanu, Gener Ismail
Summary: Distal renal tubular acidosis (DRTA) is often associated with autoimmune diseases, but the true incidence of complete or incomplete forms is still unknown. This review summarizes data from 37 case reports published in the last five years to provide information on clinical presentation, biological alterations, treatment, and outcome. The mechanisms underlying the association between DRTA and autoimmune diseases are not fully understood and further research is needed.
Article
Genetics & Heredity
Tejashree Anil More, Prabhakar S. Kedar
Summary: The study found that in the Indian population, the A858D missense mutation in the SLC4A1 gene is the most common cause of dRTA coupled with HS. HRM analysis can be used as a rapid screening method for common SLC4A1 mutations that cause AR dRTA in the Indian population.
Article
Genetics & Heredity
Wencong Guo, Qijing Song, Ruixiao Zhang, Qing Xin, Zhiying Liu, Yanhua Lang, Xiangzhong Zhao, Leping Shao
Summary: This study analyzed genetic variants in 51 Chinese patients with distal renal tubular acidosis (dRTA) and identified multiple novel variants associated with dRTA. The research expands the mutation spectrum of primary dRTA and provides valuable references for genetic counseling in Chinese populations.
Article
Urology & Nephrology
Norma E. Guerra Hernandez, Circe Gomez Tenorio, Laura Paloma Mendez Silva, Teresa Moraleda Mesa, Laura I. Escobar, Carolina Salvador, Rosa Vargas Poussou, Victor M. Garcia Nieto
Summary: Primary distal renal tubular acidosis (dRTA) is a rare tubulopathy characterized by hyperchloremic metabolic acidosis. This article presents a documented case of autosomal dominant dRTA in Mexico.
Article
Pediatrics
Emma Yi Xiu Walker, Timothy Alexander James Lindsay, Jeremy Allgrove, Matko Marlais, Detlef Bockenhauer, Wesley Hayes
Summary: This study retrospectively reviewed a large pediatric cohort with X-linked hypophosphatemia (XLH) treated with burosumab. The results showed that despite maximal dosing, some children did not achieve normal phosphate levels. Therefore, the dosing recommendations for burosumab should consider targeting normalization of alkaline phosphatase instead of plasma phosphate concentration.
ARCHIVES OF DISEASE IN CHILDHOOD
(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)
Article
Immunology
Emily K. Glover, Kate Smith-Jackson, Vicky Brocklebank, Valerie Wilson, Patrick R. Walsh, Emma K. Montgomery, Edwin K. S. Wong, Sally Johnson, Michal Malina, David Kavanagh, Neil S. Sheerin
Summary: Prophylactic eculizumab treatment dramatically improves graft survival, making transplantation a viable therapeutic option in aHUS.
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
Pediatrics
Savitha Shenoy, Detlef Bockenhauer
Summary: In rare cases, hypernatraemia may be caused by salt poisoning instead of dehydration, making it difficult to diagnose. Currently, there is no accepted cut-off value to distinguish between dehydration and salt poisoning, resulting in differing opinions on the diagnosis. It is important to address this challenge and improve the assessment tools for hypernatraemia.
Article
Genetics & Heredity
Fevronia Kiparissi, Antonia Dastamani, Liina Palm, Aline Azabdaftari, Luis Campos, Edward Gaynor, Stephanie Grunewald, Holm H. Uhlig, Robert Kleta, Detlef Boeckenhauer, Kelsey D. J. Jones
Summary: This article describes three cases of PMM2-HIPKD patients developing IBD, with onset at ages 0, 6, and 10. The development of IBD is associated with intestinal inflammation and the unusual finding of gastric antral foveolar hyperplasia. The severity of IBD varies but is well controlled with conventional and first-line biologic treatment approaches.
Article
Endocrinology & Metabolism
Rebecca Jane Moon, Maisara Soliman, Lieke Hoogenboom, Rodney D. Gilbert, Georgina Bird-Lieberman, Jaspal Singh, Detlef Bockenhauer, Anitha Kumaran
Summary: This article describes a case of a 6-week-old infant presenting with seizures and life-threatening hyponatremia. A hypothalamic hamartoma (HH) was identified on magnetic resonance imaging. Clinical examination and biochemistry were consistent with the syndrome of inappropriate secretion of anti-diuretic hormone (SIADH). Successful management of hyponatremia was achieved using tolvaptan.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Review
Urology & Nephrology
Carsten A. Wagner, Robert Unwin, Sergio C. Lopez-Garcia, Robert Kleta, Detlef Bockenhauer, Stephen Walsh
Summary: This review discusses the underlying genetic and acquired causes of distal renal tubular acidosis (dRTA), a condition characterized by the failure to acidify urine below pH 5.5. Inherited forms of dRTA are caused by variants in specific genes such as SLC4A1 and ATP6V1B1, while acquired forms can result from autoimmune diseases or adverse drug effects. Incomplete dRTA, which is frequently found in patients with or without kidney stone disease, may represent an intermediate state in the ability to excrete acids. Untreated or unrecognized dRTA can lead to various complications such as rickets, osteomalacia, nephrolithiasis, and electrolyte disorders, and increase the risk of chronic kidney disease development.
NATURE REVIEWS NEPHROLOGY
(2023)
Letter
Pediatrics
Zainab Arslan, Elizabeth Watson, Detlef Bockenhauer
PEDIATRIC NEPHROLOGY
(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
Hematology
Vicky Brocklebank, Patrick R. Walsh, Kate Smith-Jackson, Thomas M. Hallam, Kevin J. Marchbank, Valerie Wilson, Theophile Bigirumurame, Tina Dutt, Emma K. Montgomery, Michal Malina, Edwin K. S. Wong, Sally Johnson, Neil S. Sheerin, David Kavanagh
Summary: Our study demonstrates the efficacy of eculizumab in improving ESKD-free survival in patients with complement-mediated atypical hemolytic uremic syndrome. The response to eculizumab treatment is influenced by the underlying genotype and clinical characteristics.
Article
Pediatrics
Faidra Veligratli, Demitra Alexandrou, Sarit Shah, Rakesh Amin, Mehul Dattani, Hoong-Wei Gan, Adeola Famuboni, Camilo Lopez-Garcia, Richard Trompeter, Detlef Bockenhauer
Summary: This study retrospectively evaluated the efficacy and safety of tolvaptan and urea in treating pediatric SIADH. The results showed that both tolvaptan and urea were effective in normalizing plasma sodium concentration, and patients tolerated the treatment well without any unexpected side effects.
PEDIATRIC NEPHROLOGY
(2023)
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)