Results 21 to 30 of about 8,162 (152)

Symptomatic renal papillary varicosities and medullary nephrocalcinosis

open access: yesBMC 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

Urinary Stones in Neonates: Dilemma Between Urolithiasis and Nephrocalcinosis

open access: yesJournal 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   +2 more
doaj   +1 more source

Enamel renal syndrome: A rare case report

open access: yesJournal 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

open access: yesAnnals 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 [PDF]

open access: yes, 2020
Presentado en sesión de 19 de octubre de ...
openaire   +3 more sources

Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report

open access: yesContemporary Clinical Dentistry, 2015
Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of nonconsanguineous parents and who presented with ...
Alok Patel   +3 more
doaj   +1 more source

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

open access: yesSaudi 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

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

open access: yesChildren, 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

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

open access: yesFrontiers 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 a patient with extrapulmonary tuberculosis – A rare entity

open access: yesJournal of Family Medicine and Primary Care, 2019
Nephrocalcinosis is a rare condition in clinical practice where there is an increased renal deposition of calcium. Varied causes of this condition have been given in literature, and tuberculosis (TB) has been an important one.
Sayan Malakar   +3 more
doaj   +1 more source

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