Results 11 to 20 of about 6,399 (205)

Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy [PDF]

Pediatrics International, 2020
AbstractBartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively ...
Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Kenji Ishikura, Riku Hamada, Naoya Morisada, Kazumoto Iijima   +8 more
openaire   +4 more sources

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome [PDF]

Nature Communications, 2023
Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its paralogue RagC, mediate a non-canonical
Irene Sambri, Marco Ferniani, Giulia Campostrini, Marialuisa Testa, Viviana Meraviglia, Mariana E. G. de Araujo, Ladislav Dokládal, Claudia Vilardo, Jlenia Monfregola, Nicolina Zampelli, Francesca Del Vecchio Blanco, Annalaura Torella, Carolina Ruosi, Simona Fecarotta, Giancarlo Parenti, Leopoldo Staiano, Milena Bellin, Lukas A. Huber, Claudio De Virgilio, Francesco Trepiccione, Vincenzo Nigro, Andrea Ballabio   +21 more
doaj   +5 more sources

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report

SAGE Open Medical Case Reports, 2017
Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous,
Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel   +3 more
doaj   +2 more sources

Successful autologous stem cell transplantation for light chain proximal tubulopathy with severe kidney injury

Clinical Case Reports, 2023
Key Clinical Message Light chain proximal tubulopathy (LCPT) is a rare type of monoclonal gammopathy of renal significance. Clinicians should consider LCPT in the differential diagnosis of patients with renal or proximal tubular dysfunction with ...
Asuka Kono, Kana Bando, Atsushi Takahata, Shigeo Toyota   +3 more
doaj   +2 more sources

Combined proximal tubulopathy, crystal-storing histiocytosis, and cast nephropathy in a patient with light chain multiple myeloma

BMC Nephrology, 2017
Background The diagnosis of myeloma, a plasma dyscrasia, often results from the workup of unexplained renal disease. Persistent renal failure in myeloma is commonly caused by tubular nephropathy due to circulating immunoglobulins and free light chains ...
Chung-Kuan Wu, An-Hang Yang, Hung-Chih Lai, Bing-Shi Lin   +3 more
doaj   +2 more sources

Light-chain proximal tubulopathy: a retrospective study from a single Chinese nephrology referral center

Renal Failure
Background Light-chain proximal tubulopathy (LCPT) is a rare disease characterized by the accumulation of monoclonal light chains within proximal tubular cells.
Xin Wang, Xiao-juan Yu, Su-xia Wang, Fu-de Zhou, Ming-hui Zhao   +4 more
doaj   +2 more sources

KCNJ16-depleted kidney organoids recapitulate tubulopathy and lipid recovery upon statins treatment

Stem Cell Research & Therapy
Background The KCNJ16 gene has been associated with a novel kidney tubulopathy phenotype, viz. disturbed acid–base homeostasis, hypokalemia and altered renal salt transport.
E. Sendino Garví, G. J. J. van Slobbe, E. A. Zaal, J. H. F. de Baaij, J. G. Hoenderop, R. Masereeuw, M. J. Janssen, A. M. van Genderen   +7 more
doaj   +2 more sources

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia-Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Desjardins C, Baik J, Bresciani L, Nilles C, Foucard C, Georget M, Daghsen L, Degos B, Méneret A, Roze E.   +9 more
europepmc   +2 more sources

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant [PDF]

Brazilian Journal of Nephrology
Gitelman syndrome (GS) is an inherited salt-wasting, hypokalemic tubulopathy caused mainly by biallelic loss-of-function variants in the SLC12A3 gene. Despite being classically diagnosed in adolescence, delayed recognition may occur.
Lígia Ribeiro, Micael Pompermayer, Catarina Santos, Joana Coutinho   +3 more
doaj   +5 more sources

Light Chain Crystalline Proximal Tubulopathy and Podocytopathy With Staining for Both Light and Heavy Chain Immunoglobulin. [PDF]

Nephrology (Carlton)
ABSTRACT A 69‐year‐old male patient presented with weight loss and proteinuria. His medical history included papillary thyroid carcinoma. Laboratory findings showed proteinuria and high κ light chain levels in both urine and serum. Bone marrow aspiration revealed plasma cell myeloma of the IgA‐κ type.
Choi S, Moon KC.
europepmc   +2 more sources