Results 31 to 40 of about 10,151 (205)

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

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, Rai, Nirendra, Kohat, Abhijeet, Ingle, Vaibhav, Sharma, Agrata, Aparna, P.   +5 more
openaire   +2 more sources

Evaluation of Phenotypes and CLDN16 Variants in 2 Different Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Families: Phenotypic Differences in Siblings and Phenotypic Similarity in Monozygotic Twins

, 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, Muhammet Akif Güler, Çiğdem Yüce Kahraman, GÜLER, Muhammet Akif   +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

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

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, Neelum Tahirkheli, Fatima Asif   +2 more
doaj   +1 more source

Nephrocalcinosis [PDF]

, 2020
Presentado en sesión de 19 de octubre de ...
openaire   +3 more sources

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): Report of three cases with a novel mutation in CLDN19 gene

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, Martin Konrad, Waleed Altay, Omar Al Masri, Lihad Al-Gazali, Ibrahim Al Attrach   +5 more
doaj   +1 more source

Subcutaneous Fat Necrosis and Hypercalcemia with Nephrocalcinosis in Infancy: Case Report and Review of the Literature

Children, 2021
Subcutaneous fat necrosis is an uncommon benign panniculitis affecting more commonly full-term newborns. It has been associated with birth asphyxia and meconium aspiration, as well as therapeutic hypothermia. Although the prognosis is generally favorable,
Katerina Chrysaidou, Georgios Sargiotis, Vasiliki Karava, Dimitrios Liasis, Victor Gourvas, Vissarios Moutsanas, Athanasios Christoforidis, Stella Stabouli   +7 more
doaj   +1 more source

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

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, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, Ramona Stroescu   +7 more
doaj   +1 more source