Article
Biochemistry & Molecular Biology
Fadil M. Hannan, Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes, Michelle Stewart, Kreepa G. Kooblall, Caroline M. Gorvin, Gemma Codner, Lydia Teboul, Sara Wells, Rajesh Thakker
Summary: The FHH3 phenotype caused by the AP2S1 p.Arg15Leu mutation was further studied in mice, demonstrating a predominantly calcitropic phenotype which can be ameliorated by treatment with Cinacalcet.
HUMAN MOLECULAR GENETICS
(2021)
Article
Endocrinology & Metabolism
Aoife Courtney, Arnold Hill, Diarmuid Smith, Amar Agha
Summary: This case report describes two cases of familial hypocalciuric hypercalcaemia (FHH) caused by a novel pathogenic missense variant in the CaSR gene. Despite sharing the same mutation, these cases have different phenotypes. Further research and genetic counseling are important for understanding the natural history of the disease and assessing the risk for relatives.
BMC ENDOCRINE DISORDERS
(2022)
Article
Surgery
J. McAllister, M. F. Arshad, E. Rab, S. P. Balasubramanian
Summary: This study evaluated the use of CCCR and 24UCA in excluding FHH patients before surgery for PHPT. The results showed that a CCCR measurement below 0.020 should raise the possibility of FHH and genetic screening should be considered. 24UCA had a lower predictive power to exclude FHH, and measurements should be interpreted in the context of renal function.
ANNALS OF THE ROYAL COLLEGE OF SURGEONS OF ENGLAND
(2022)
Article
Endocrinology & Metabolism
Su Ann Tee, Paul Brennan, Anna L. Mitchell
Summary: Marfan syndrome and familial hypocalciuric hypercalcaemia are two distinct disorders caused by mutations in different genes, FBN1 and CaSR, respectively. Genetic testing plays a crucial role in accurately diagnosing these diseases, providing patients with timely guidance and treatment.
ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS
(2021)
Article
Medicine, General & Internal
Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, Darja Smigoc Schweiger
Summary: FNAH is a rare familial form of hyperthyroidism caused by TSHR gene variants, with patients showing similar symptoms as Graves' disease. Ablative therapy is recommended to prevent relapses of hyperthyroidism.
MEDICINA-LITHUANIA
(2021)
Article
Pediatrics
Yifan Zhang, Talia Gutman, Allison Tong, Jonathan C. Craig, Aditi Sinha, Allison Dart, Allison A. Eddy, Debbie S. Gipson, Detlef Bockenhauer, Hui-Kim Yap, Jaap Groothoff, Michael Zappitelli, Nicholas J.A.Webb, Stephen I. Alexander, Susan Furth, Susan Samuel, Tom D. Blydt-Hansen, Janis Dionne, Mini Michael, Scott E. Wenderfer, Wolfgang C. Winkelmayer, Steven McTaggart, Amanda Walker, Cortney T. Zimmerman, Angelique F. Ralph, Angela Ju, Laura J. James, Camilla S. Hanson
Summary: Children with chronic kidney disease and their caregivers face numerous barriers in accessing psychosocial and educational support, leading to feelings of disempowerment and isolation. Improved availability and access to psychosocial and educational interventions are needed to enhance the well-being and educational advancement of these children.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Matthew H. Byrne, Fanourios Georgiades, Alexander Light, Catherine E. Lovegrove, Catherine Dominic, Josephine Rahman, Senthooran Kathiravelupillai, Tobias Klatte, Kasra Saeb-Parsy, Rajeev Kumar, Sarah Howles, Grant D. Stewart, Ben Turney, Oliver Wiseman
Summary: During the COVID-19 pandemic in the UK, management of ureteric stones saw changes with lower admission rates and fewer invasive procedures. However, these changes did not affect treatment success or outcomes, indicating that the strategies developed during the pandemic can be safely adopted for more conservative treatment.
Article
Endocrinology & Metabolism
Koenraad Veys, Ward Zadora, Katharina Hohenfellner, Detlef Bockenhauer, Mirian C. H. Janssen, Patrick Niaudet, Aude Servais, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Nele Kanzelmeyer, Lars Pape, Elke Wuhl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Bert van den Heuvel, Elena Levtchenko
Summary: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome, which justifies the inclusion of cystinosis into newborn screening programs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Endocrinology & Metabolism
Sophie Howarth, Georgina Sneddon, Kathleen R. Allinson, Salman Razvi, Anna L. Mitchell, Simon H. S. Pearce
Summary: Autoimmune Addison's disease (AAD) is caused by a combination of various genetic susceptibility polymorphisms and environmental factors. A genome-wide association study (GWAS) conducted with Scandinavian Addison's registries identified four novel loci in the LPP, SH2B3, SIGLEC5, and UBASH3A genes that are associated with AAD. A subsequent case-control association study with a UK cohort of 420 AAD patients confirmed significant association of the LPP and UBASH3A genes, and nominal association of the SH2B3 gene with AAD. Further research with larger patient cohorts is needed to confirm the association of SH2B3 and SIGLEC5/SPACA6 alleles.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(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
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.
Editorial Material
Medicine, General & Internal
Malachi J. McKenna, Mary A. T. Flynn
ANNALS OF INTERNAL MEDICINE
(2023)
Letter
Endocrinology & Metabolism
Bruna Barbar, Campbell Mathieson, Chris Boot, Richard Quinton, Andy James, Petros Perros, Simon Pearce, Catherine Napier, Earn Gan, Anna Mitchell, Yaasir H. Mamoojee
CLINICAL ENDOCRINOLOGY
(2023)
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
Sarah A. Howles, Caroline M. Gorvin, Treena Cranston, Angela Rogers, Anna K. Gluck, Hannah Boon, Kate Gibson, Mushtaqur Rahman, Allen Root, M. Andrew Nesbit, Fadil M. Hannan, Rajesh V. Thakker
Summary: This study identified potentially disease-causing variants in the GNA11 gene, as well as confirmed the benign nature of other variants.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
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)
Article
Ophthalmology
Petros Perros, Milos Zarkovi, Simon H. Pearce, Salman Razvi, Hema Kolli, A. Jane Dickinson
Summary: The purpose of this study was to determine the inter-observer variability of the Clinical Activity Score (CAS) in patients with thyroid eye disease (TED). The study showed that there is unreliable inter-observer variability in both the total CAS and its individual components. This highlights the need for improving the performance of the CAS or exploring other methods to assess disease activity.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
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
Surgery
Jessica Whitburn, Saiful Miah, Sarah A. Howles
BRITISH JOURNAL OF SURGERY
(2023)