Gill, Jasmeet Wiederkehr, Michael R.
Published in
Clinical Nephrology. Case Studies
Dent disease is an inherited proximal renal tubulopathy leading to low molecular weight proteinuria, hypercalciuria with nephrocalcinosis and nephrolithiasis, and progressive renal failure. Two genetic mutations have been identified. The disease usually presents in childhood or early adult life and may be associated with other proximal tubular defe...
Bargagli, Matteo Tio, Maria Clarissa Waikar, Sushrut S. Ferraro, Pietro Manuel
Published in
Nutrients
Oxalate is both a plant-derived molecule and a terminal toxic metabolite with no known physiological function in humans. It is predominantly eliminated by the kidneys through glomerular filtration and tubular secretion. Regardless of the cause, the increased load of dietary oxalate presented to the kidneys has been linked to different kidney-relate...
Güven, Ayla Konrad, Martin Schlingmann, Karl P.
Published in
Journal of Pediatric Endocrinology and Metabolism
Objectives Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia, whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1.25(OH)2D; mutations in SLC34A1 encoding renal sodium phosphate cotransporter NaPi-IIa lead to primary renal phospha...
Baig, Shanat Paisey, Richard Dawson, Charlotte Barrett, Timothy Maffei, Pietro Hodson, James Rambhatla, Srinivasa Bhargav Chauhan, Priyesh Bolton, Shaun Dassie, Francesca
...
Published in
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Alström syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. The characteristics of renal disease in the syndrome have not been systematically described. The aim of this study is to define the onse...
Oda, Yasuhiro Sawa, Naoki Hoshino, Junichi Ubara, Yoshifumi
Published in
Internal Medicine
Saha, Soma Kandasamy, Devasenathipathy Sharma, Raju Bal, Chandrasekhar Sreenivas, Vishnubhatla Goswami, Ravinder
Published in
The Journal of clinical endocrinology and metabolism
There are concerns about the long-term safety of conventional therapy on renal health in patients with hypoparathyroidism. Careful audit of these would help comparisons with upcoming parathyroid hormone therapy. We investigated nephrocalcinosis, renal dysfunction, and calculi, their predictors and progression over long-term follow-up in patients wi...
Lenherr-Taube, Nina Trajcevski, Karin Sochett, Etienne Katzman, Debra K.
Published in
Frontiers in Pediatrics
Introduction: Patients with anorexia nervosa (AN) experience medical complications including impaired bone metabolism, increased fracture rate, kidney stones and chronic renal failure. However, the mechanisms of such complications are not fully understood. Healthy adolescents have been shown to have higher PTH levels when compared with pre-pubertal...
Cuomo, Vincenzo Riccio, Cesare Gerardo Coppola, Salvatore
Published in
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Primary hyperoxaluria (PH) is a rare genetic disorder with autosomal recessive transmission, characterized by high endogenous production and markedly excessive urinary excretion of oxalate (Ox). It causes the accumulation of calcium oxide crystals in organs and tissues including bones, heart, arteries, skin and kidneys, where it may cause oxalo-cal...
Colares Neto, Guido de Paula Yamauchi, Fernando Ide Baroni, Ronaldo Hueb Bianchi, Marco de Andrade Gomes, Andrea Cavalanti Chammas, Maria Cristina Martin, Regina Matsunaga
Published in
Journal of the Endocrine Society
Bertocchio, Jean-Philippe Genetet, Sandrine Da Costa, Lydie Walsh, Stephen B. Knebelmann, Bertrand Galimand, Julie Bessenay, Lucie Guitton, Corinne De Lafaille, Renaud Vargas-Poussou, Rosa
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Published in
Kidney International Reports