Results 11 to 20 of about 13,710 (218)

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]

, 2015
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo, Daniela Cremasco, Dorella Del Prete, Enrica Tosetto, Franca Anglani, Luciana Bonfante, Luisa Maria Bertizzolo, Maria Antonietta Addis, Monica Ceol, null null   +9 more
core   +4 more sources

Microlithiasis and Nephrocalcinosis in Preterm Neonates. Is the Treatment Necessary? A One-Year Sonographic Follow-up Study [PDF]

Iranian Journal of Neonatology, 2023
Background: Renal microlithiasis includes renal hyperechogenic deposits in the calyces, pelvis, or ureter with a diameter of less than 2-3 mm by ultrasound.
Manizheh Mostafa Gharehbaghi, Fakhralsadat Mortazavi, Hanieh Hosseinzadeh-Asl, Iman Bagheri Gahvechi, Razieh Parizad, Samira Jafarisis, Shahab Masoumi   +6 more
doaj   +1 more source

Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report

Uro, 2021
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy characterized by renal loss of calcium and magnesium leading to progressive renal failure.
Gopal Narang, Tim Shimon, Jonathan Moore, Megan Hager, Filippo Pinto e Vairo, Karen Stern, Mira Keddis, Mitchell Humphreys   +7 more
doaj   +1 more source

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]

, 2018
Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I, Lang, Y, Lu, J, Paiardini, A, Shao, L, Zhao, X   +5 more
core   +1 more source

Caspase-independent programmed cell death triggers Ca2PO4 deposition in an in vitro model of nephrocalcinosis [PDF]

, 2018
We provide evidence of caspase-independent cell death triggering the calcification process in GDNF-silenced HK-2 ...
Anglani F., Ceol M, Cristofaro R, Del Prete D, Furlan C, Gianesello L, Priante G, Quaggio F, Terrin L   +8 more
core   +1 more source

Effect of vitamin D3 supplement in glycemic control of pediatrics with type 1 diabetes mellitus and vitamin D deficiency [PDF]

, 2015
Background: Glycemic control prevents microvascular complications in patients with type I diabetes mellitus such as retinopathy, nephropathy and neuropathy that influences quality of life.
Fatahi, N., Mohammadian, S., Vakili, M.A., Zaeri, H.   +3 more
core   +1 more source

Burosumab therapy in children with x-linked hypophosphatemia [PDF]

, 2018
BACKGROUND X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities.
Boot, Annemieke M, Carpenter, Thomas O, Chen, Chao-Yin, Hogler, Wolfgang, Imel, Erik A, Kakkis, Emil, Linglart, Agnes, Mao, Meng, Martin, Javier San, Padidela, Raja, Portale, Anthony A, Skrinar, Alison, van\u27t Hoff, William, Whyte, Michael P   +13 more
core   +2 more sources

Urinary Stones in Neonates: Dilemma Between Urolithiasis and Nephrocalcinosis

Journal of Urological Surgery, 2015
Urinary stones are extremely rare in the neonatal population. Most of the urinary stones in the neonate contain calcium. Nephrolithiasis in the neonate may be as urolithiasis and/or nephrocalcinosis.
Fatma Narter, Fehmi Narter, Kemal Sarıca   +2 more
doaj   +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

Enamel renal syndrome: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky ...
S V Kala Vani, M Varsha, Y Uday Sankar
doaj   +1 more source