Results 51 to 60 of about 11,057 (205)

Nephrocalcinosis with Hypokalaemic Syndrome [PDF]

, 1961
A case of nephrocalcinosis originated from renal acido s is is presented of a 31-year-old woman, suffering from hypocalaemic syndrome, periodic paralysis of the ...
平山, 多秋, 金原, 文夫, 石部, 知行   +2 more
core  

Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?

, 2018
The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging ...
Imel, Erik A., Linda A. DiMeglio, Todd D. Nebesio, Erica A. Eugster, Hansen, David W., DiMeglio, Linda A., Eugster, Erica A., Nebesio, Todd D., David W. Hansen, Erik A. Imel   +9 more
core   +1 more source

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb‐Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome

Acta Physiologica, Volume 242, Issue 9, September 2026.
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Marleen L. A. Kortenoeven, Milos Bogdanovic, Ida Appel, Karsten Skjødt, Ernst‐Martin Fuchtbauer, Kirsten Madsen, Lars Lund, Régine Chambrey, Dominique Eladari, R. Todd Alexander, Christian A. Hübner, J. Christopher Hennings, Henrik Dimke   +12 more
wiley   +1 more source

Digenic disease causing variants in a patient with severe nephrocalcinosis

Journal of Rare Diseases
Background Nephrocalcinosis and cystinuria are two distinct kidney disorders. Nephrocalcinosis is the abnormal, generalised deposition of calcium salts, primarily calcium phosphate or calcium oxalate, within the kidney's parenchyma, and has multiple ...
Caitlin Pollock, Robert Geraghty, Holly Mabillard, John A. Sayer   +3 more
doaj   +1 more source

G6PC Downregulation Promotes Renal Calcium Oxalate Stone Formation via Lactate‐Induced SNAIL1 K206 Lactylation and Epithelial‐Mesenchymal Transition

Advanced Science, Volume 13, Issue 43, 3 August 2026.
In renal calcium oxalate stone formation, G6PC downregulation leads to lactate accumulation. This lactate mediates CBP/p300‐dependent lactylation of SNAIL1 at K206, promoting its nuclear translocation. Nuclear SNAIL1 activates the TGF‐β/SMAD3 pathway, driving epithelial‐mesenchymal transition and fibrosis, which ultimately facilitates crystal ...
Kai Liu, Boming Zhang, Ruixin Fan, Chen Duan, Yangjun Zhang, Huahui Wu, Xiangyang Yao, Xiongmin Mao, Bo Li, Youmiao Zeng, Zhenzhen Xu, Yang Wang, Mengcheng Luo, Xinyu Xu, Ninghan Feng, Heng Li, Hua Xu   +16 more
wiley   +1 more source

Microscopic nephrocalcinosis in chronic kidney disease patients

, 2015
Experimental data indicate that microscopic calcium phosphate deposition in the kidney (nephrocalcinosis) may accelerate progression of chronic kidney disease (CKD).
Claes, Kathleen, Bammens, Bert, Meijers, Björn, Lerut, Eveline, Daenen, Kristien, Sprangers, Ben, Evenepoel, Pieter, Naesens, Maarten, Kuypers, Dirk   +8 more
core   +1 more source

BARTTER'S SYNDROME: A CASE REPORT OF NEPHROCALCINOSIS

Eurasian Journal of Medicine, 2019
Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically
Aves Editorial Aves Editorial
doaj  

Successful treatment of early allograft dysfunction with cinacalcet in a patient with nephrocalcinosis caused by severe hyperparathyroidism: a case report

BMC Research Notes, 2017
Background Hyperparathyroidism is common in patients undergoing kidney transplantation. Occasionally, this condition can cause early allograft dysfunction by inducing calcium phosphate deposition in the allograft, which results in nephrocalcinosis ...
Boonyarit Cheunsuchon, Suchai Sritippayawan   +1 more
doaj   +1 more source