Results 41 to 50 of about 6,550 (239)
Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale? [PDF]
, 2014 International audienceWith an incidence of 1:7000 births, cystinuria, the most frequent cause of stone formation among genetic diseases, represents a major medical problem.
Dominique Bazin +5 more
core +3 more sources
Primary hyperparathyroidism can generate recurrent pancreatitis and secondary diabetes mellitus – A case report [PDF]
, 2019 Introduction. Acute or recurrent pancreatitis may be a complication of primary hyperparathyroidism and patients with previous episodes of pancreatitis may develop secondary diabetes mellitus. Case report.
Dănciulescu Miulescu, Rucsandra Elena +4 more
core +2 more sources
Risks Associated with Drug Treatments for Kidney Stones [PDF]
, 2015 Introduction: Renal stones are one of the most painful medical conditions patients experience. For many they are also a recurrent problem. Fortunately, there are a number of drug therapies available to treat symptoms as well as prevent future stone ...
Borofsky, Michael S. +2 more
core +1 more source
Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group [PDF]
, 2015 OBJECTIVE: Diet interventions may reduce the risk of urinary stone formation and its recurrence, but there is no conclusive consensus in the literature regarding the effectiveness of dietary interventions and recommendations about specific diets for ...
Bianchi, G +31 more
core +2 more sources
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
Frontiers in Pediatrics, 2020 Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases,
Malak Alghamdi +9 more
doaj +1 more source
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Iranian Journal of Public Health, 2021 Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi +4 more
doaj +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Clinical profile of a Polish cohort of children and young adults with cystinuria
Renal Failure, 2021 Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk +16 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit +15 more
doaj +1 more source
Current Opinion in Nephrology & Hypertension, 2013 Cystinuria is a rare genetic disease with increased urinary excretion of the poorly soluble amino acid cystine. It can lead to significant morbidity in affected patients due to the often large and recurrent resulting kidney stones. Treatment is focused on the prevention of stone formation.
David S. Goldfarb, Nicola T. Sumorok
openaire +3 more sources