Results 21 to 30 of about 11,057 (205)
, 2023 Objective: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare disease characterized by the kidney loss of magnesium and calcium and by bilateral medullary nephrocalcinosis. It is caused by mutations in the CLDN16 and CLDN19 genes.
YÜCE KAHRAMAN, Çiğdem +3 more
core +1 more source
Symptomatic renal papillary varicosities and medullary nephrocalcinosis
BMC Urology, 2021 Background Nephrocalcinosis is often asymptomatic but can manifest with renal colic or hematuria. There is no reported association between nephrocalcinosis and renal vascular malformations, which may also be a source of hematuria.
Brent Cleveland, Michael Borofsky
doaj +1 more source
Neonatal Nephrocalcinosis and Diagnostic Implications
Annals of Abbasi Shaheed Hospital and Karachi Medical & Dental College, 2017 Nephrocalcinosis and its outcome has been widely studied in the preterm population. There is a paucity of data regarding nephrocalcinosis in term babies.
Syed Kashif Abbas +2 more
doaj +1 more source
Nephrocalcinosis—A gateway to the diagnosis
Indian Journal of Nephrology, 2021 Nephrocalcinosis (NC) is the augmented calcium content within the renal parenchyma. Its pathogenesis mainly involves hypercalciuria. The presence of medullary NC provides a window to the clinician for the diagnosis of many important diseases. In this case series, we highlight three diseases that could be diagnosed with a high index of suspicion and ...
Atlani, Mahendra +5 more
openaire +2 more sources
Predisposing Factors for Nephrolithiasis and Nephrocalcinosis in Cystic Fibrosis [PDF]
, 2011 Objective: Cystic fibrosis (CF) is characterized by chronic pulmonary disease, insufficient pancreatic and digestive function, and abnormal sweat concentration.
Khazaei, Mahmoodreza +5 more
core +2 more sources
Saudi Journal of Kidney Diseases and Transplantation, 2013 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19.
Amar Al-Shibli +5 more
doaj +1 more source
Children, 2023 Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2
Teofana Otilia Bizerea-Moga +7 more
doaj +1 more source
Frontiers in Medicine, 2022 BackgroundBartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the KCNJ1 gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle’s loop.
Mi Tian +6 more
doaj +1 more source
Nephrocalcinosis in juvenile farmed Atlantic salmon
, 2023 English summary Good health and welfare of farmed fish is crucial for further growth and development of the fish farming industry in Norway and abroad. Systematic work is being done at all levels of the industry with measures that can improve the health
Klykken, Christine
core