New horizons in the management of patients with cystinuria

Tiselius, Hans‐Göran

doi:10.1097/mou.0b013e328333b674

Cited by 33 publications

(17 citation statements)

References 34 publications

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“…2 For this purpose, D-penicillamine and tiopronin (a-mercaptopropionylglycine, a-MPG) are the most commonly used agents. 9 As cystine is the homodimer formed from the linkage of two cysteine molecules by a disulfide bond, thiol-containing drugs (eg, tiopronin given at doses of 400 to 1200 mg/day, administered in three divided doses) have sulphydryl groups that can reduce this disulfide bond, producing mixed drug-cysteine disulfides that are more soluble than the homodimer cystine. The aim of all these medical therapy is to maintain the cystine concentration in the urine below its solubility level.…”

Section: Discussionmentioning

confidence: 99%

Unusual Cause of Nephrolithiasis: Cystinuria

Kaynar¹,

Küçük²,

Şehit³

2019

Turkiye Klinikleri J Case Rep

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ystinuria with the overall prevalance of 1 person per 7.000 population is an autosomal-recessive defect in reabsorptive transport of cystine and dibasic amino acids ornithine, arginine, and lysine from the luminal fluid of the renal proximal tubule. Two genes SLC3A1 (located on chromosome 2p16.3-p21) and SLC7A9 (located on chromosome 19q12-13.1) are responsible for cysteine reabsorbtion. Mutations of these genes lead to inability of renal tubules to reabsorb cystine and phenotypic manifestation of cystinuria. The relative insolubility of cystine at physiological urine pH lead to stone formation, infection, obstruction and ultimately chronic kidney disease. 1,2 The other dibasic amino acids including ornithine, arginine and lysine are soluble, so increase in their urinary excretion does not lead to stones. Cystine stones which occur most commonly within the first two decades of life are found in 6-8% of pediatric renal lithiasis cases while 1-2% of adult stone formers. 2 The median age of onset of stones was reported as 12 years. 3 The appropriate management of cystinuria is often challenging and requires close follow-up of the patient. Here, recurrent cystine stone former 47 years old man with no sign of urolithiasis until 35 years of his life was presented. Unusual Cause of Nephrolithiasis: Cystinuria A AB BS S T TR RA AC CT T Cystinuria is a rare hereditary disease in which excretion of detectable amount of cysteine, lysine, ornithine and arginine amino acids in the urine is present leading to cysteine nephrolithiasis. Over 100 mutations for SLC3A1 and SLC7A9 genes were identified for this disease. 47 years old male patient suffering from recurrent nephrolithiasis analysis of which revealed L-cysteine type stone for the last 12 years applied to our hospital with the complaint of flank pain. Obesity, hyperglycemia, hypertriglyceridemia, microscopic hematuria, macroalbuminuria, multiple stones in the urinary tract with the diameter of 1 cm and hypercystinuria were detected. Urology consultation for stone removal, alkalization and increasing the volume of urine, life style modifications in order to lose body fat, potassium citrate and tiopronine were adviced to the patient. If stones passed through urinary tract are not analysed, diagnosis of cystinuria will be missed out. With this case, an unlucky but common state for patients with cystinuria is discussed.

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Section: Discussionmentioning

confidence: 99%

Unusual Cause of Nephrolithiasis: Cystinuria

Kaynar¹,

Küçük²,

Şehit³

2019

Turkiye Klinikleri J Case Rep

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“…However, some centres use shock-wave lithotripsy as the primary treatment option in stones that have a surface area of less than 300 mm 2 [20]. New, minimally invasive urological techniques in experienced hands minimise the need for open surgery [21].…”

Section: Treatment and Prognosismentioning

confidence: 99%

Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

Näntö‐Salonen¹,

Niinikoski²,

Simell³

2012

Inborn Metabolic Diseases

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“…Therefore, several 1,3,4-thiadiazole-based compounds display a broad spectrum of biological activities, such as antimicrobial [32], antituberculosis [33], antioxidant [34], anti-inflammatory [35], anticonvulsant [36], antidepressant, anxiolytic [37], antihypertensive [38], anticancer [39], and antifungal activity [40]. The most prominent thiadiazole derivative is possibly the acetazolamide [N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide], a very well-known carbonic anhydrase inhibitor that is used in the treatment of glaucoma [41], high-altitude illness [42], epileptic seizures [43], idiopathic intracranial hypertension [44], hemiplegic migraine [45], cystinuria [46], obstructive sleep apnea [47], and congenital myasthenic syndromes [48].…”

Section: Introductionmentioning

confidence: 99%

In Vitro Assessment of Antimicrobial, Antioxidant, and Cytotoxic Properties of Saccharin–Tetrazolyl and –Thiadiazolyl Derivatives: The Simple Dependence of the pH Value on Antimicrobial Activity

Frija

Ntungwe²,

Sitarek

et al. 2019

Pharmaceuticals

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The antimicrobial, antioxidant, and cytotoxic activities of a series of saccharin–tetrazolyl and –thiadiazolyl analogs were examined. The assessment of the antimicrobial properties of the referred-to molecules was completed through an evaluation of minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) values against Gram-positive and Gram-negative bacteria and yeasts. Scrutiny of the MIC and MBC values of the compounds at pH 4.0, 7.0, and 9.0 against four Gram-positive strains revealed high values for both the MIC and MBC at pH 4.0 (ranging from 0.98 to 125 µg/mL) and moderate values at pH 7.0 and 9.0, exposing strong antimicrobial activities in an acidic medium. An antioxidant activity analysis of the molecules was performed by using the DPPH (2,2-diphenyl-1-picrylhydrazyl) method, which showed high activity for the TSMT (N-(1-methyl-2H-tetrazol-5-yl)-N-(1,1-dioxo-1,2-benzisothiazol-3-yl) amine, 7) derivative (90.29% compared to a butylated hydroxytoluene positive control of 61.96%). Besides, the general toxicity of the saccharin analogs was evaluated in an Artemia salina model, which displayed insignificant toxicity values. In turn, upon an assessment of cell viability, all of the compounds were found to be nontoxic in range concentrations of 0–100 µg/mL in H7PX glioma cells. The tested molecules have inspiring antimicrobial and antioxidant properties that represent potential core structures in the design of new drugs for the treatment of infectious diseases.

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New horizons in the management of patients with cystinuria

Abstract: Patients afflicted by cystine stone disease need an aggressive medical treatment, gentle stone-removing surgery and careful follow-up.

Cited by 33 publications

References 34 publications

Unusual Cause of Nephrolithiasis: Cystinuria

Unusual Cause of Nephrolithiasis: Cystinuria

Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

In Vitro Assessment of Antimicrobial, Antioxidant, and Cytotoxic Properties of Saccharin–Tetrazolyl and –Thiadiazolyl Derivatives: The Simple Dependence of the pH Value on Antimicrobial Activity

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