CASE REPORT OF A PATIENT WITH CYSTINURIA
Slovenska pediatrija, 2020 Cystinuria is a rare genetic disease characterised by the appearance of kidney stones. Clinically, it is manifested by renal pain, fever or haematuria. In untreated patients, stones may cause urinary tract obstruction and endanger the kidney.
Matej Kemperle, Robert Kordič, Rina Rus
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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
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Cystinuria: an inborn cause of urolithiasis
Orphanet Journal of Rare Diseases, 2012 Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.
Eggermann Thomas +2 more
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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
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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
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Accuracy of urine pH testing in a regional metabolic renal clinic: is the dipstick accurate enough? [PDF]
, 2013 Urine pH is a useful marker for assessing treatment need and efficacy in patients with nephrolithiasis. Though the gold standard of measurement is with a pH electrode, dipsticks offer the convenience of cost, ease of use, and the possibility of patients ...
Caroline Robinson +4 more
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Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc +2 more sources
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
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Alkyl substituted cucurbit[6]uril assisted competitive fluorescence recognition of lysine and methionine in aqueous solution [PDF]
, 2017 The use of competitive ratiometric fluorescence indicator displacement chemosensors derived from two alkyl substituted cucurbit[6]uril-based host-guest complexes is reported.
Bai, Qinghong +8 more
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Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
Journal of Research in Medical Sciences, 2017 Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1.
Samaneh Markazi +3 more
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