Results 1 to 10 of about 8,162 (152)

Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation

Brazilian Journal of Nephrology, 2014
Introduction: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis
Jorge Reis Almeida, Gabriel de Almeida Machado, Márcia Maria Guimarães dos Santos, Patricia de Fátima Lopes, Jorge Paulo Strogoff de Matos, Aderbal Cypriano Neves, Jocemir Ronaldo Lugon   +6 more
doaj   +1 more source

A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test

Çocuk Dergisi, 2021
Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a ...
Sara Maria Mosca Ferreira Da Silva, Telma Barbosa, Ana Teixeira, Céu R. Mota, Teresa Costa, Liane Correia Costa   +5 more
doaj   +1 more source

Renal function impairment in children with intestinal failure receiving parenteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Children with intestinal failure are at risk for kidney dysfunction; however, the contributing factors are not well established. We aimed to describe risk factors associated with glomerular and tubular renal dysfunction in children with intestinal failure.
Amanda M. Braga da Mata, Heitor Pons Leite, Eduardo F. Hatanaka, Mariana Janiques Barcia Magalhães Fonseca, Marta Liliane de Almeida Maia, Giovana S. G. Sabio, Maria Fernanda C. de Camargo, Paulo C. Koch Nogueira   +7 more
wiley   +1 more source

Risk factors and implications associated with ultrasound‐diagnosed nephrocalcinosis in cats with chronic kidney disease

Journal of Veterinary Internal Medicine
Background Microscopic nephrocalcinosis is a common pathological feature of chronic kidney disease (CKD) in cats. Detection of macroscopic nephrocalcinosis using ultrasonography and its implications remain unexplored.
Pak‐Kan Tang, Rebecca F. Geddes, Yu‐Mei Chang, Rosanne E. Jepson, Dirk Hendrik Nicolaas van denBroek, Nicola Lötter, Jonathan Elliott   +6 more
doaj   +1 more source

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

The Turkish Journal of Pediatrics, 2018
Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades.
Caner Alparslan, Elif Perihan Öncel, Sinem Akbay, Demet Alaygut, Fatma Mutlubaş, Mansur Tatlı, Martin Konrad, Önder Yavaşcan, Belde Kasap-Demir   +8 more
doaj   +1 more source

Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2018
Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis.
Peco-Antić Amira, Ivelja Biljana, Miloševski-Lomić Gordana, Paripović Dušan, Konrad Martin   +4 more
doaj   +1 more source

Vitamin D Intoxication in Three Children With Varied Manifestations: A Case Series and Review

Journal of Pediatrics Review, 2021
Background: Inadvertent and erroneous prescription of vitamin D beyond the recommended dosage and route of administration can cause vitamin D intoxication in children. Infants are particularly vulnerable to such toxicity.
Manas Ranjan Behera, Bijay Kumar Meher, Chinmay Kumar Behera, Sibabratta Patnaik   +3 more
doaj   +1 more source

Significant kidney impairment in pediatric inflammatory bowel disease and practice points for pediatric gastroenterologists

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Children with inflammatory bowel disease (IBD) have an increased risk of developing kidney disorders, which may cause significant kidney function impairment (SKI) or lead to chronic kidney disease (CKD). In this study we aimed to provide insights in causes and diagnoses of SKI cases and to provide recommendations for pediatric ...
Stephanie A. Vuijk, Renz C. W. Klomberg, Tobias Schwerd, Anne M. Griffiths, Séamus Hussey, Matthew W. Carroll, Petter Malmborg, Protima Deb, Margreet Wessels, Natalia Mouratidou, Stephanie van Biervliet, Michael Friedt, Susie Minson, Femke H. M. Vrieling‐Prince, Nicholas M. Croft, Lissy de Ridder, the PIBD‐SETQuality Safety Registry collaborative group   +16 more
wiley   +1 more source

Lanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?

IJU Case Reports, 2021
Introduction The therapy to reduce urinary oxalate excretion in primary hyperoxaluria type 1 is still required. Case presentation A 37‐year‐old hemodialyzed man suffered from systemic oxalosis secondary to primary hyperoxaluria type 1 exhibited a drastic
Agnieszka Pozdzik, Cristina David, Jelle Vekeman, Frederik Tielens, Michel Daudon   +4 more
doaj   +1 more source

Dihydrotachysterol: a bad choice in the treatment of chronic hypoparathyroidism

Ожирение и метаболизм, 2022
Hypoparathyroidism is an endocrine disease caused by damage of the parathyroid glands and characterized by underproduction of parathyroid hormone. This can lead to severe hypocalcemia and its associated complications.
E. S. Avsievich, E. V. Kovaleva, A. M. Gorbacheva, A. K. Eremkina, N. G. Mokrysheva   +4 more
doaj   +1 more source