Results 21 to 30 of about 13,710 (218)

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

The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome [PDF]

open access: yes, 2009
Aim: To analyze the prevalence and associated oral findings of nephrocalcinosis in a group of patients affected with amelogenesis imperfecta (AI). The relationship between types of AI and nephrocalcinosis were also evaluated.
Kirzioglu, Zuhal   +3 more
core   +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

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

open access: yesChildren, 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   +7 more
doaj   +1 more source

Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. [PDF]

open access: yes, 2015
There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not ...
Butani, Lavjay
core   +1 more source

Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis [PDF]

open access: yes, 2017
In a retrospective study, most young children with CAH had at least one episode of hypercalcemia, whereas a smaller percentage was found to have hypercalciuria and/or ...
Imel, Erik A.   +4 more
core   +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

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