Results 71 to 80 of about 1,812 (217)

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Kidney Tubules — Scientific and Applied Value

Архивъ внутренней медицины, 2022
Currently, there is a high scientific interest in studying the features of the structure and functions of the tubules of the kidneys. The relevance of the topic is due to the potential possibility of identifying various markers of tubular dysfunction and
E. s Levitskaya, M. M. Batiushin
doaj   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Diagnosis and clinical biochemistry of inherited tubulopathies [PDF]

Annals of Clinical Biochemistry, 2001
Epithelial ion channels and transporter proteins have physiologically important roles throughout the length of the nephron. Discovering the molecular identities of tubular epithelial cell proteins and their functional roles has increased understanding of both renal physiology and tubular diseases.
J A, Sayer, S H, Pearce
openaire   +3 more sources

Survival and Renal Recovery in Newly Diagnosed Multiple Myeloma Patients Presenting With Dialysis‐Requiring Severe Renal Impairment

European Journal of Haematology, Volume 116, Issue 5, Page 577-584, May 2026.
ABSTRACT Background Severe renal insufficiency requiring dialysis in newly diagnosed multiple myeloma (NDMM) patients has been independently associated with poor survival outcomes. However, there is a paucity of data on factors predicting renal recovery and survival outcomes of these patients.
Rintu Sharma, Eshetu G. Atenafu, Esther Masih‐Khan, Harjot Vohra, Sita Bhella, Christine Chen, Vishal Kukreti, Guido Lancman, Anca Prica, A. Keith Stewart, Rodger Tiedemann, Suzanne Trudel, Chloe Yang, Donna Reece   +13 more
wiley   +1 more source

Long-term follow-up of patients with Bartter syndrome type I and II [PDF]

, 2017
Background. Little information is available on a long-term follow-up in Bartter syndrome type I and II. Methods. Clinical presentation, treatment and long-term follow-up (5.0-21, median 11years) were evaluated in 15 Italian patients with homozygous (n ...
Bettinelli, Alberto, Bianchetti, Mario G., Borsa, Nicolò, Mattiello, Camilla, Puricelli, Elena, Sironi, Francesca, Tammaro, Fabiana, Tedeschi, Silvana   +7 more
core  

Role of CFTR and ClC-5 in Modulating Vacuolar H+-ATPase Activity in Kidney Proximal Tubule [PDF]

, 2010
Background/Aims: It has been widely accepted that chloride ions moving along chloride channels act to dissipate the electrical gradient established by the electrogenic transport of H+ ions performed by H+-ATPase into subcellular vesicles.
Bezerra, Camila N. A., Carraro-Lacroix, Luciene Regina, Girardi, Adriana C. C., Lessa, Lucilia M. A., Malnic, Gerhard, Morales, Marcelo M., Pessoa, Thaissa D., Souza-Menezes, Jackson   +7 more
core   +1 more source

Review Article: Renal Safety Profiles of Tenofovir Alafenamide, Tenofovir Disoproxil Fumarate, and Entecavir for the Treatment of Chronic Hepatitis B Infection—General and Special Populations

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 7, Page 945-954, April 2026.
Current first‐line NUCs show comparable renal safety profiles in CHB patients with no or mild kidney dysfunction, with growing evidence that favours TAF. Future prospective studies are needed to validate these findings, and more research should focus on CHB patients with diabetes mellitus who are at risk of CKD.
Lung‐Yi Mak, Tsung‐Hui Hu, Desmond Y. H. Yap   +2 more
wiley   +1 more source

Gitelman’s and Bartter’s syndromes: from genetics to the molecular basis of hypertension and more

Kidney & Blood Pressure Research, 2022
Background: Gitelman’s and Bartter’s syndromes (GS/BS) are rare genetic tubulopathies characterized by electrolyte imbalance and activation of the renin angiotensin aldosterone system (RAAS).
Verdiana Ravarotto, Giovanni Bertoldi, Lucia Federica Stefanelli, Federico Nalesso, Lorenzo A Calò   +4 more
doaj   +1 more source