1,843 results match your criteria Cystinuria

Extremely rapid stone formation in cystinuria: look out for dietary supplements!

Clin Kidney J 2021 Jun 28;14(6):1694-1696. Epub 2021 Jan 28.

Nephrology Department, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

Cystinuria is an autosomal recessive disease characterized by recurrent nephrolithiasis. The prevention of new stones is based on diluting and alkalinizing urine, as well as a low salt and moderate protein intake. The avoidance of food rich in methionine (the precursor of cystine) is also advocated. Read More

View Article and Full-Text PDF

Bariatric surgery in a patient with cystinuria.

Clin Nephrol Case Stud 2021 7;9:54-58. Epub 2021 May 7.

Nephrology Division, NY Harbor VA Medical Center, and NYU School of Medicine, New York, NY, USA.

We recently encountered concern about the safety of bariatric surgery for a patient with cystinuria. Bariatric surgery procedures include those that cause malabsorption, like the Roux-en-Y gastric bypass procedure, and restrictive operations, such as the sleeve gastrectomy. These procedures produce beneficial effects on health and life expectancy, though whether kidney stones are prevented, as well as promoted, is not established. Read More

View Article and Full-Text PDF


Nephrol Ther 2021 Apr;17S:S100-S107

Service de physiologie - explorations fonctionnelles rénales et métaboliques, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.

Cystinuria is the most common monogenic nephrolithiasis disorder. Because of its poor solubility at a typical urine pH of less than 7, cystine excretion results in recurrent urinary cystine stone formation. A high prevalence of high blood pressure and of chronic kidney disease has been reported in these patients. Read More

View Article and Full-Text PDF

Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria.

Clin Chim Acta 2021 Jul 29;518:128-133. Epub 2021 Mar 29.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy. Electronic address:

Background: Cystinuria is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. The Brand's test, used for diagnosis, requires dangerous substances, so has been replaced with high-performance liquid chromatography with fluorimetric detection (HPLC-FL). However, this technique requires the use of complex equipment. Read More

View Article and Full-Text PDF

Cystinuria poorly responding to treatment - the risk of chronic kidney disease.

Pol Merkur Lekarski 2021 Feb;49(289):60-63

Department of Internal Medicine, Nephrology and Dialysis, Military Institute of Medicine. Warsaw, Poland.

Cystinuria is the genetic condition for the increased excretion of cystine in the urine. Patients mainly suffer from afflictions related to the presence and passage of kidney stones. The currently available treatment methods include conservative treatment based on increased fluid intake, appropriate diet, medications and urological procedures. Read More

View Article and Full-Text PDF
February 2021

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Ann Med Surg (Lond) 2021 Mar 25;63:102182. Epub 2021 Feb 25.

Department of Obstetrics and Gynecology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan.

Background: Cystinuria is known as a heritable disorder affecting the cysteine reabsorption by renal system as well as the reabsorption of dibasic amino acids. The main objectives of the present study were to identify genetic mutations in SLC7A9 gene associated with cystinuria.

Methods: A cross sectional study design was conducted. Read More

View Article and Full-Text PDF

The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation.

Nutrients 2021 Feb 6;13(2). Epub 2021 Feb 6.

Department of Urology, University Stone Center, University Hospital Bonn, 53127 Bonn, Germany.

Despite the importance of dietary management of cystinuria, data on the contribution of diet to urinary risk factors for cystine stone formation are limited. Studies on the physiological effects of diet on urinary cystine and cysteine excretion are lacking. Accordingly, 10 healthy men received three standardized diets for a period of five days each and collected daily 24 h urine. Read More

View Article and Full-Text PDF
February 2021

An Update on Evaluation and Management in Cystinuria.

Urology 2021 Mar 6;149:70-75. Epub 2021 Jan 6.

Senior Teaching Fellow, School of Chemical and Process Engineering, University of Leeds, Leeds, United Kingdom.

Cystinuria is the most common cause of inherited stone disease and is caused by the failure of absorption of filtered dibasic amino acids including cystine in the proximal tubules. It is associated with a very high recurrence rate in affected patients, with the potential for significant morbidity in such patients due to the need for repeated surgical interventions. A multimodal and multispecialty approach in a dedicated centre is the key to improving treatment outcomes and patient adherence to the treatment. Read More

View Article and Full-Text PDF

[A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria].

Urologiia 2020 12(6):126-130

N.F. Filatov Childrens City Hospital of Moscow Healthcare Ministry, Moscow, Russia.

The article describes a clinical case of kidney stone disease (KSD) in a child of 4 y.o. with calcium urolithiasis. Read More

View Article and Full-Text PDF
December 2020

Outcome of primary tubular tubulopathies diagnosed in pediatric age.

Nefrologia (Engl Ed) 2021 Mar-Apr;41(2):182-190. Epub 2020 Dec 22.

Hospital Universitario Central de Asturias, Oviedo, Asturias, España; Universidad de Oviedo, Oviedo, Asturias, España. Electronic address:

Background And Objective: Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration and intercurrent complications. Read More

View Article and Full-Text PDF
December 2020

Clinical profile of a Polish cohort of children and young adults with cystinuria.

Ren Fail 2021 Dec;43(1):62-70

Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.

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. In this study, we sought to identify the clinical characteristics of patients with cystinuria in a national cohort. Read More

View Article and Full-Text PDF
December 2021

Outcomes of dissolution therapy and monitoring for stone disease: should we do better?

Curr Opin Urol 2021 03;31(2):102-108

2nd Department of Urology, Sismanoglio Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Purpose Of Review: Surgical management is the cornerstone of urolithiasis treatment, but high recurrence rates and associated complications necessitate the existence of medical treatment options, aiming at dissolution of kidney stones and prevention of recurrence. The purpose of this review is to present the most recent knowledge existing in scientific literature, regarding dissolution therapy and ways of monitoring nephrolithiasis patients.

Recent Findings: A number of laboratory studies have been performed testing experimental treatments (tolvaptan, chlorthalidone, atorvastatin, a-lipoic acid, glucosaminoglycans, plant extracts), to reduce kidney stone formation and cellular damage and showed encouraging results. Read More

View Article and Full-Text PDF

[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]

Rev Esp Salud Publica 2020 Dec 16;94. Epub 2020 Dec 16.

Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas. Servicio de Neonatología. Hospital Clínico Universitario. Santiago de Compostela. España.

Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass spectrometry in July 2000. As a primary objective, 28 diseases are screened, including those recommended SNS except sickle cell anemia which is in the inclusion phase. In its 20-year history, 404,616 newborns (nb) have been analyzed, identifying 547 cases affected by the diseases included, with a global incidence of 1: 739 newborns and 1: 1. Read More

View Article and Full-Text PDF
December 2020

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Front Pediatr 2020 11;8:569389. Epub 2020 Nov 11.

King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.

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 and/or genes. Among nephrolithiasis diseases, cystinuria is potentially treatable, and further stone formation may be preventable. We report 23 patients who were identified biochemically and genetically to have cystinuria showing the diversity of the phenotype of cystinuria and expanding the genotype by identifying a broad spectrum of mutations. Read More

View Article and Full-Text PDF
November 2020


Dean G Assimos

J Urol 2021 02 17;205(2):623-626. Epub 2020 Nov 17.

View Article and Full-Text PDF
February 2021

Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone.

Urol Case Rep 2021 Jan 28;34:101473. Epub 2020 Oct 28.

Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan.

Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood. It is rare to be diagnosed only with bladder stones and essential to select an operative procedure according to the age of the patient and the size of the stone. We report the case of a 2-year-old boy with cystinuria diagnosed with a large bladder stone and investigate the efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation. Read More

View Article and Full-Text PDF
January 2021


Postgrad Med J 2020 Nov 12. Epub 2020 Nov 12.

Pathology Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran

View Article and Full-Text PDF
November 2020

Non-contrast computed tomography characteristics in a large cohort of cystinuria patients.

World J Urol 2020 Nov 9. Epub 2020 Nov 9.

Department of Urology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Purpose: Cystine stones are widely considered hard and difficult to treat. Hounsfield Units (HU) are used in other stone types to estimate 'hardness' and treatments based on that finding. Our objective was to report mean HU of cystine stones in vivo in a large case series of cystinuria patients and assess for differences in genotype. Read More

View Article and Full-Text PDF
November 2020

Metal-organic frameworks: a future toolbox for biomedicine?

Chem Soc Rev 2020 Dec 2;49(24):9121-9153. Epub 2020 Nov 2.

Department of Chemistry, CICECO - Aveiro Institute of Materials, University of Aveiro, 3810-193 Aveiro, Portugal.

The present review focuses on the use of Metal-Organic Frameworks, (MOFs) highlighting the most recent developments in the biological field. This review assesses, in the first instance, the cytotoxicity of MOFs (particularly those used for various biological applications described throughout this review), and shows that for standard MOFs based on metals already present in active molecules of the human body, toxicity is not a significant limitation. Here we underline the MIL-, UiO- and ZIF-series of MOFs which remain until now the most used materials in drug delivery of active pharmaceutical ingredients (APIs), such as antitumourals or retroviral drugs (with high loading and slow release time). Read More

View Article and Full-Text PDF
December 2020

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis.

World J Urol 2020 Sep 16. Epub 2020 Sep 16.

Department of Pediatric Urology, Children's Urolithiasis Treatment Center of National Health Commission of China, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

Purpose: To investigate the prevalence of inherited causes in an early onset urolithiasis cohort and each metabolic subgroup.

Methods: A retrospective analysis of both metabolic and genomic data was performed for the first 105 pediatric urolithiasis patients who underwent exome sequencing at our hospital from February 2016 to October 2018. Measurements included the diagnostic yield of exome sequencing in the entire cohort and each metabolic subgroup (hyperoxaluria, hypocitraturia, hypercalciuria, hyperuricosuria and cystine stone subgroups). Read More

View Article and Full-Text PDF
September 2020

Cystinuria: clinical practice recommendation.

Kidney Int 2021 01 9;99(1):48-58. Epub 2020 Sep 9.

Division of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.

Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Read More

View Article and Full-Text PDF
January 2021

Endourologic and Retroperitoneoscopic Combined Mininvasive Management of Cystine Urolithiasis in an Infant of 13 Months of Life.

J Endourol Case Rep 2020 11;6(1):49-52. Epub 2020 Mar 11.

Department of Pediatric Surgery and Pediatric Minimally Invasive Surgery and New Technologies, San Bortolo Hospital, Vicenza, Italy.

There are limited data about urolithiasis in young infants, especially in class age younger than 2 years. We report the case of a child <2 years old (13 months) affected by metabolic urolithiasis (cystinuria), and renal hypertension. He was admitted to our ward from the pediatric emergency room for fever, lack of appetite, irritability, and abdominal pain crisis. Read More

View Article and Full-Text PDF

Metabolic and Clinical Characteristics of Children with Urolithiasis from Southern India.

Indian J Pediatr 2021 04 1;88(4):345-350. Epub 2020 Aug 1.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.

Objective: To study the etiological profile and patterns of clinical presentations of urolithiasis (UL) in children.

Methods: This observational study included patients <18 y with UL, who were referred to the pediatric nephrology clinic. Clinical features, family history, consanguinity and estimated glomerular filtration rate (eGFR) at presentation and follow-up were recorded. Read More

View Article and Full-Text PDF

Pharmacological Dilutional Therapy Using the Vasopressin Antagonist Tolvaptan for Young Patients With Cystinuria: A Pilot Investigation.

Urology 2020 Oct 17;144:65-70. Epub 2020 Jul 17.

Division of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, MA.

Objective: To perform a pilot study of short-term safety, tolerability, and impact on urinary stone risk parameters of the vasopressin V2-receptor antagonist tolvaptan (which increases urinary excretion of free water) among adolescents and young adults with cystinuria.

Materials And Methods: We enrolled cystinuria patients age 12-25 years. Subjects were treated for 4 days at low-dose tolvaptan (0. Read More

View Article and Full-Text PDF
October 2020

Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.

J Biomol Struct Dyn 2020 Jun 30:1-10. Epub 2020 Jun 30.

Homi Bhabha National Institute, Mumbai, India.

Cqm1 protein acts as the receptor for mosquito-larvicidal binary (BinAB) toxin that is used worldwide for mosquito control. We found amino acid transporter protein, rBAT, as phylogenetically closest Cqm1 homolog in humans. The present study reveals large evolutionary distance between Cqm1 and rBAT, and rBAT ectodomain lacks the sequence motif which serves as binding-site for the BinAB toxin. Read More

View Article and Full-Text PDF

[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

Urologiia 2020 Jun(3):81-86

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation, Moscow, Russia.

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. Read More

View Article and Full-Text PDF

Genetics of kidney stone disease.

Nat Rev Urol 2020 Jul 12;17(7):407-421. Epub 2020 Jun 12.

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Kidney stone disease (nephrolithiasis) is a common problem that can be associated with alterations in urinary solute composition including hypercalciuria. Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is ∼15%. However, for the majority of individuals, nephrolithiasis has a multifactorial aetiology involving genetic and environmental factors. Read More

View Article and Full-Text PDF

Update on cystine stones: current and future concepts in treatment.

Intractable Rare Dis Res 2020 May;9(2):71-78

Clinic of Dermatology, Dr. Brinkmann, Schult & Samimi-Fard. Gladbeck, Germany.

Cystine stones are relatively uncommon compared with other stone compositions, constituting just 1% to 2% of adult urinary tract stone diseases, and accounting for up to 10% of pediatric stone diseases. Two responsible genes of cystinuria have been identified, the SLC3A1 and the SLC7A9. Cystinuria is diagnosed by family history, stone analysis, or by measurement of urine cystine excretion. Read More

View Article and Full-Text PDF