1,757 results match your criteria Cystinuria


Urine proteomic profiling in patients with nephrolithiasis and cystinuria.

Int Urol Nephrol 2018 Dec 5. Epub 2018 Dec 5.

Nephrology Division, New York University Langone Medical Center, New York, NY, USA.

Purpose: The purpose of the study was to assess the differences in the concentration and function of urinary proteins between patients with cystine stones (CYS) and healthy controls (HC). We postulated that CYS and HC groups would demonstrate different proteomic profiles.

Methods: A pilot study was performed comparing urinary proteomes of 10 patients with CYS and 10 age- and gender-matched HC, using liquid chromatography-mass spectrometry. Read More

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December 2018
1 Read

Cystinuria: genetic aspects, mouse models, and a new approach to therapy.

Urolithiasis 2018 Dec 4. Epub 2018 Dec 4.

Department of Medicinal Chemistry, Ernest Mario School of Pharmacy, Rutgers University, Piscataway, NJ, 08854, USA.

Cystinuria, a genetic disorder of cystine transport, is characterized by excessive excretion of cystine in the urine and recurrent cystine stones in the kidneys and, to a lesser extent, in the bladder. Males generally are more severely affected than females. The disorder may lead to chronic kidney disease in many patients. Read More

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December 2018

The effect of selenium supplementation on cystine crystal volume in patients with cystinuria.

Biomedicine (Taipei) 2018 Dec 26;8(4):26. Epub 2018 Nov 26.

Isfahan Kidney Transplantation Research Center, Department of Urology, Alzahra Research Centers, Isfahan University of Medical Science, Isfahan, Iran.

Background: Cystinuria as an autosomal recessive sickness is a relatively rare disease. Formation of cystine stones indicates cystinuria. Few studies are considered the cysteine crystal volume in management of cystinuria. Read More

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December 2018
2 Reads

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

Urolithiasis 2018 Nov 23. Epub 2018 Nov 23.

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. Read More

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November 2018
2 Reads

Polymorphism in the PBX1 gene is related to cystinuria in Brazilian families.

J Cell Mol Med 2018 Nov 18. Epub 2018 Nov 18.

Endourology and Stone Disease Section, Division of Urology, University of Sao Paulo Medical School, Sao Paulo, Brazil.

The aim of our study was to determine regions of loss of heterozygosity, copy number variation analysis, and single nucleotide polymorphisms (SNPs) in Brazilian patients with cystinuria. A linkage study was performed using DNA samples from six patients with cystinuria and six healthy individuals. Genotyping was done with the Genome-Wide Human SNP 6. Read More

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November 2018
6 Reads

An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice.

J Bone Miner Res 2018 Nov 5. Epub 2018 Nov 5.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, UK.

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. Read More

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November 2018
6 Reads

Renal stones in two children with two rare etiologies.

Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1203-1206

Department of Pediatric Nephrology, Sheikh Khalifa Medical City, Abu Dhabi, UAE.

The incidence of urolithiasis in children has shown an increase in recent years which may be attributed to changing dietary patterns, sedentary lifestyles, and obesity. Among the various etiologies for renal stones in children, two rare entities worth mentioning are cystinuria and 2, 8-dihydroxyadenine (DHA) urolithiasis. Cystinuria is an inherited cause of nephrolithiasis which occurs due to impaired cystine reabsorption in the renal proximal tubule. Read More

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November 2018
2 Reads

Amyloid-like Structures Formed by Single Amino Acid Self-Assemblies of Cysteine and Methionine.

ACS Chem Neurosci 2018 Nov 13. Epub 2018 Nov 13.

Department of Science, School of Technology , Pandit Deendayal Petroleum University , Gandhinagar , Gujarat 382007 , India.

We report for the very first time the discovery of amyloid-like self-assemblies formed by the nonaromatic single amino acids cysteine (Cys) and methionine (Met) under neutral aqueous conditions. The structure formation was assessed and characterized by various microscopic and spectroscopic techniques such as optical microscopy, phase contrast microscopy, scanning electron microscopy, and transmission electron microscopy. The mechanism of self-assembly and the role of hydrogen bonding and thiol interactions of Cys and Met were assessed by Fourier transform infrared spectroscopy, thermogravimetric analysis, X-ray diffraction, and solid state NMR along with various control experiments. Read More

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November 2018
1 Read
4.360 Impact Factor

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.

BMC Nephrol 2018 Oct 20;19(1):278. Epub 2018 Oct 20.

Institute of Human Genetics, University Hospital, Technical University RWTH Aachen, Pauwelsstr. 30, D-52074, Aachen, Germany.

Background: Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The SLC3A1/rBAT gene encodes the heavy subunit of the heterodimeric rBAT-bAT transporter, whereas the light chain is encoded by the SLC7A9/ bAT gene. Read More

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October 2018
2 Reads

Twelve-year-old boy presenting with recurrent abdominal pain and 25 urinary calculi.

Arch Dis Child Educ Pract Ed 2018 Sep 15. Epub 2018 Sep 15.

Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.

: A 12-year-old boy, with intermittent abdominal pain from 3 years of age, presented with increased frequency of right lower quadrant pain (at least three episodes per week over the past six months) and pain during micturition affecting school attendance. His family history included referred urolithiasis. An abdominal ultrasound performed 1 year before our visit showed a small stone of 4 mm in the right renal pelvis for which he did not receive any therapy. Read More

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September 2018
11 Reads

Simultaneous determination of tiopronin and its primary metabolite in plasma and ocular tissues by HPLC.

Biomed Chromatogr 2018 Sep 3:e4375. Epub 2018 Sep 3.

Department of Chemistry, Missouri University of Science and Technology, Rolla, MO, USA.

Tiopronin, formally 2-mercaptopropionylglycine (MPG), is currently prescribed to treat cystinuria and rheumatoid arthritis, and its antioxidant properties have led to its investigation as a treatment for cataracts, a condition in which oxidative stress is strongly implicated. To study its accumulation in the eye, a reliable, isocratic HPLC method was developed for the determination of MPG and its primary metabolite 2-mercaptopropionic acid (MPA) in plasma and relevant ocular tissues. This method utilizes pre-column derivatization and fluorescence detection. Read More

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September 2018
10 Reads

Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.

Clin Lab 2018 Jul;64(7):1145-1151

Background: Cystinuria is a rare inherited renal stone disease caused by mutations in the SLC3A1 and SLC7A9 genes. The Chinese cystinuria phenotype and genotype have rarely been reported in the literature.

Methods: For this research, the clinical features and genetic etiology were analyzed in seven children, and the clinical characteristics were summarized. Read More

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July 2018
16 Reads

[Genetic and biochemical features of the monogenic hereditary urolithiasis].

Biomed Khim 2018 Aug;64(4):315-325

Institute of Molecular Medicine of the Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia.

Urolithiasis is a common urological problem. In most cases, this multifactorial pathology develops due to the combination of inherited low-penetrance gene variants and environment factors such as urinary tract infections and unbalanced diet. However, some cases are monogenic. Read More

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August 2018
11 Reads

In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.

Mol Biol Rep 2018 Oct 1;45(5):1165-1173. Epub 2018 Aug 1.

Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, P.O.Box: 81746-73461, Isfahan, Iran.

Cystinuria is an autosomal recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from renal tubule and small intestine. Mutations in two genes: SLC3A1, encoding the heavy chain rbAT of the renal cystine transport system and SLC7A9, the gene of its light chain b AT have a crucial role in the diseases. In our previous studies from Iranian populations with Cystinuria totally six and eleven novel mutations respectively identified in SLC3A1 and SLC7A9 genes. Read More

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October 2018
13 Reads

Conversion from Cystine to Noncystine Stones: Incidence and Associated Factors.

J Urol 2018 Jul 27. Epub 2018 Jul 27.

Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; EDGE Consortium. Electronic address:

Purpose: Patients with cystinuria are often treated with medical alkalization and shock wave lithotripsy, although each treatment is hypothesized to increase the risk of calcium phosphate stones. We performed a multicenter retrospective review to evaluate whether stones of another composition develop in patients with cystinuria and with what frequency.

Materials And Methods: We retrospectively reviewed the records of a multi-institutional cohort of patients with cystinuria. Read More

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July 2018
8 Reads

The impact of surgical intervention on renal function in cystinuria.

J Bras Nefrol 2018 Jun 21. Epub 2018 Jun 21.

Department of Pediatric Urology, Mersin University Faculty of Medicine, Mersin, Turkey.

Introduction: Cystinuria is an autosomal recessive disorder due to intestinal and renal transport defects in cystine and dibasic amino acids, which result in recurrent urolithiasis and surgical interventions. This study aimed to assess the impact of surgical interventions on renal function by analyzing estimated glomerular filtration rates.

Methods: Thirteen pediatric patients with cystinuria, who were followed-up in a single tertiary institution between 2004 and 2016, were included in the study. Read More

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June 2018
7 Reads

Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling.

Metab Brain Dis 2018 Jun 24. Epub 2018 Jun 24.

2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria.

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[Kidney full of stones, and an adrenal gland not quite normal].

Ann Cardiol Angeiol (Paris) 2018 Jun 19;67(3):219-221. Epub 2018 May 19.

Service d'endocrinologie-diabétologie-maladies métaboliques, l'institut du Thorax, CHU de Nantes, 44093 Nantes cedex 1, France. Electronic address:

A 31-year-old patient was followed for cystinuria, justifying CT scans. In 2006, a tissue mass of 3cm of the right adrenal gland, homogeneous, measured at 3.5cm in 2007 was noted. Read More

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June 2018
2 Reads

A Dynamic Chemical Network for Cystinuria Diagnosis.

Angew Chem Int Ed Engl 2018 Jul 20;57(28):8421-8424. Epub 2018 Apr 20.

Department of Biological Chemistry and Molecular Modeling, IQAC-CSIC, Jordi Girona 18-26, 08034, Barcelona, Spain.

The study of molecular networks represents a conceptual revolution in chemistry. Building on previous knowledge and after understanding the rules of non-covalent interactions, the design of stimulus-responsive chemical systems is possible. Herein we report a new strategy, based on the reorganization of a dynamic chemical network that generates new fluorescent associations in the presence of cysteine or cystine. Read More

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First cardiac manifestation of hypotonia-cystinuria syndrome.

Metab Brain Dis 2018 08 7;33(4):1375-1379. Epub 2018 Apr 7.

Pediatric Hematology-Oncology Training and Research Hospital, Pediatric Genetic Unit, Ankara, Turkey.

Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother with a novel homozygous deletion in SLC3A1 and PREPL gene. Both of siblings had mild facial dysmorphism, hypotonia, feeding problems, failure to thrive, developmental delay. Read More

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August 2018
1 Read

Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria.

Bioorg Med Chem Lett 2018 05 10;28(8):1303-1308. Epub 2018 Mar 10.

Department of Medicinal Chemistry, Ernest Mario School of Pharmacy, Rutgers, The State University of New Jersey, 160 Frelinghuysen Road, Piscataway, NJ 08854, United States. Electronic address:

To overcome the chemical and metabolic stability issues of l-cystine dimethyl ester (CDME) and l-cystine methyl ester (CME), a series of l-cystine diamides with or without N-methylation was designed, synthesized, and evaluated for their inhibitory activity of l-cystine crystallization. l-Cystine diamides 2a-i without N-methylation were found to be potent inhibitors of l-cystine crystallization while N-methylation of l-cystine diamides resulted in derivatives 3b-i devoid of any inhibitory activity of l-cystine crystallization. Computational modeling indicates that N-methylation leads to significant decrease in binding of the l-cystine diamides to l-cystine crystal surface. Read More

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Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.

Indian J Nephrol 2018 Jan-Feb;28(1):84-85

Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.

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PREVALENCE OF CYSTINURIA IN SERVALS ( LEPTAILURUS SERVAL) IN THE UNITED STATES.

J Zoo Wildl Med 2017 Dec;48(4):1102-1107

Cystinuria is a condition caused by defects in amino acid transport within the kidneys and small intestines. It has been reported in humans, dogs, domestic cats, ferrets, nondomestic canids, and nondomestic felids, including servals ( Leptailurus serval). Genetic mutations have been identified in dogs, humans, and domestic cats. Read More

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December 2017

The Respiratory Induced Kidney Motion: Does It Really Effect the Shock Wave Lithotripsy?

Urol J 2017 01 23;15(1):11-15. Epub 2017 Jan 23.

Department of Urology, Ankara Training and Research Hospital, Ankara, Turkey.

Purpose: To investigate the effect of respiratory induced kidney mobility on success of shock wave lithotripsy (SWL) with an electrohydraulic lithotripter.

Materials And Methods: Between May 2013 and April 2015, 158 patients underwent SWL treatment for kidney stones with an electrohydraulic lithotripter. The exclusion criteria were presence of a known metabolic disease (such as cystinuria), non-opaque stones, need for focusing with ultrasonography, abnormal habitus, urinary tract abnormalities, and inability to tolerate SWL until the end of the procedure. Read More

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January 2017
5 Reads

Metabolic investigation in patients with nephrolithiasis.

Einstein (Sao Paulo) 2017 Oct-Dec;15(4):452-456. Epub 2017 Dec 18.

Centro Universitário Faculdade Assis Gurgacz, Cascavel, PR, Brazil.

Objective: To evaluate the prevalence of metabolic disorders associated with nephrolithiasis in a female population.

Methods: A retrospective study on 1,737 patients with evidence of recent formation of renal stones, being 54% females. The laboratory investigation consisted of at least two samples of blood and 24-hour urine to assess calcium, uric acid, citrate and creatinine levels, qualitative cystinuria, urinary pH following fasting and 12-hour water restriction, urine culture, serum creatinine and parathyroid hormone. Read More

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March 2018
6 Reads

The genetic framework for development of nephrolithiasis.

Asian J Urol 2017 Jan 28;4(1):18-26. Epub 2016 Nov 28.

Smith Institute for Urology, Hofstra Northwell School of Medicine, Lake Success, NY, USA.

Over 1%-15% of the population worldwide is affected by nephrolithiasis, which remains the most common and costly disease that urologists manage today. Identification of at-risk individuals remains a theoretical and technological challenge. The search for monogenic causes of stone disease has been largely unfruitful and a technological challenge; however, several candidate genes have been implicated in the development of nephrolithiasis. Read More

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January 2017
10 Reads

Case Study - Case Studies in Cystinuria.

Urol Nurs 2017 Mar-Apr;37(2):90-3

The diagnosis and treatment of patients with rare inherited metabolic disorders associated with recurrent and often obstructive kidney stones are important to the prevention of chronic kidney disease or end stage renal disease. Two case studies in this article describe the diagnosis and management of cystinuria, the most common rare kidney stone disorder. Read More

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January 2018
6 Reads

Early Recognition and Management of Rare Kidney Stone Disorders.

Urol Nurs 2017 Mar-Apr;37(2):81-9, 102

Kidney stones, especially those that present in childhood/adolescence, may be due to rare inherited disorders such as cystinuria. Early recognition and prompt treatment can help reduce or even prevent the serious long-term complications of these rare stone disorders. Read More

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January 2018
2 Reads

Cystinuria: One Possible Reason for Kidney and Salivary Gland Lithiasis Relationship.

J Oral Maxillofac Surg 2018 May 22;76(5):1013-1015. Epub 2017 Nov 22.

Department Head, Aix Marseille University, Marseille, France; Surgery Department-Maxillofacial and Stomatology, Conception University Hospital, Marseille, France; and Laboratoire Parole et Langage, Aix-en-Provence, France.

Salivary gland lithiasis affects 1 to 2% of adults. The submandibular glands are concerned in 87% of cases. An association between kidney and salivary lithiases, although often mentioned, has rarely been observed. Read More

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May 2018
4 Reads

Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease.

J Endourol 2018 02 3;32(2):148-153. Epub 2018 Jan 3.

1 Department of Urology, University of California , San Francisco, San Francisco, California.

Introduction: Cystinuria is a genetic disorder marked by elevated urinary cystine excretion and recurrent cystine nephrolithiasis. Interestingly, despite seemingly similar contralateral renal anatomy, a subset of cystinuric patients consistently form stones in only one kidney. The aim of this study is to evaluate clinical outcomes in unilateral vs bilateral cystine stone formers. Read More

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February 2018
2 Reads

Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011-2012).

PLoS One 2017 22;12(11):e0188543. Epub 2017 Nov 22.

Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, Indiana, United States of America.

Background: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Read More

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December 2017
8 Reads

Do Urinary Cystine Parameters Predict Clinical Stone Activity?

J Urol 2018 Feb 12;199(2):495-499. Epub 2017 Sep 12.

Department of Urology, University of Texas Southwestern Medical Center, Dallas, Texas; Jane and Charles Pak Center for Mineral Metabolism and Clinical Research, Dallas, Texas. Electronic address:

Purpose: An accurate urinary predictor of stone recurrence would be clinically advantageous for patients with cystinuria. A proprietary assay (Litholink, Chicago, Illinois) measures cystine capacity as a potentially more reliable estimate of stone forming propensity. The recommended capacity level to prevent stone formation, which is greater than 150 mg/l, has not been directly correlated with clinical stone activity. Read More

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February 2018
16 Reads

A multiregional Italian cohort of 24-hour urine metabolic evaluation in renal stone formers.

Minerva Urol Nefrol 2018 Feb 7;70(1):87-94. Epub 2017 Sep 7.

Department of Urology, University of Rome Tor Vergata, Rome, Italy.

Background: Nephrolithiasis is a common condition with several studies documenting an increased prevalence over the past four decades. EAU and AUA guidelines recommend 24-hour urine metabolic evaluation in high-risk stone formers. Aim of this study is to retrospectively evaluate the first three years of experience with LithoTest® (Biohealth Italia Srl, Turin, Italy) through the analysis of demographic, clinical and biochemical data collected from a large cohort of patients with kidney stones. Read More

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February 2018
14 Reads

Mass Spectrometry-based Assay to Identify Drugs that Influence Cystine Solubility.

Bio Protoc 2017 Jul;7(14)

Department of Urology, University of California, San Francisco, CA, USA.

Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the dimer of the amino acid cysteine (Sumorok and Goldfarb, 2013). Using a mouse model of cystinuria, we have recently shown that administration of drugs that increase cystine solubility in the urine can be a novel therapeutic strategy for the clinical management of the disease (Zee ., 2017). Read More

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July 2017
8 Reads

Stone growth patterns and risk for surgery among children presenting with hypercalciuria, hypocitraturia and cystinuria as underlying metabolic causes of urolithiasis.

J Pediatr Urol 2017 Aug 4;13(4):357.e1-357.e7. Epub 2017 Aug 4.

Division of Urology, The Hospital for Sick Children, Toronto, ON, Canada.

Introduction: Hypercalciuria, hypocitraturia and cystinuria are the most common underlying metabolic stone abnormalities in children. The present study compared stone growth patterns, stone burden, and the risk of stone-related surgery among these underlying metabolic conditions.

Methods: A retrospective cohort of 356 children with renal stones, followed from 2000 to 2015, was studied. Read More

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August 2017
3 Reads

Effectiveness of Treatment Modalities on Kidney Stone Recurrence.

Authors:
Anna L Zisman

Clin J Am Soc Nephrol 2017 Oct 22;12(10):1699-1708. Epub 2017 Aug 22.

Section of Nephrology, Department of Medicine, University of Chicago, Chicago, Illinois

Nephrolithiasis is highly prevalent across all demographic groups in the Western world and beyond, and its incidence rates are rising. In addition to the morbidity of the acute event, stone disease often becomes a lifelong problem that requires preventative therapy to diminish ongoing morbidity. Across the majority of stone types, increased fluid intake and targeted dietary modifications are mainstays of therapy. Read More

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October 2017
2 Reads

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

BMC Genomics 2017 08 11;18(Suppl 5):550. Epub 2017 Aug 11.

School of Biosciences, University of Kent, Canterbury, Kent, CT2 7NJ, UK.

Background: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Read More

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August 2017
5 Reads
3.990 Impact Factor

CYSTINURIA: Crystals that Make a Baby Cry.

Indian J Clin Biochem 2017 Jul 27;32(3):364-366. Epub 2016 Aug 27.

Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India.

Cystinuria is a common aminoaciduria due to a COAL transporter defect in renal tubular epithelium. Increased level of cystine in urine with occasional cystine crystal can be diagnostic. With reference to clinical examinations, symptoms and laboratory reports we present a case of primary cystinuria. Read More

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July 2017
2 Reads

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

Genet Med 2018 01 20;20(1):109-118. Epub 2017 Jul 20.

Laboratory of Biochemical Neuroendocrinology, Department of Human Genetics, University of Leuven, Leuven, Belgium.

PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Read More

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January 2018
35 Reads

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Mol Genet Genomic Med 2017 Jul 16;5(4):373-389. Epub 2017 May 16.

Inserm U1245UNIROUENNormandie UnivNormandy Centre for Genomic and Personalized MedicineRouenFrance.

Background: Cystinuria is an autosomal recessive disorder of dibasic amino acid transport in the kidney and the intestine leading to increased urinary cystine excretion and nephrolithiasis. Two genes, and , coding respectively for rBAT and b0,+AT, account for the genetic basis of cystinuria.

Methods: This study reports the clinical and molecular characterization of a French cohort including 112 cystinuria patients and 25 relatives from 99 families. Read More

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July 2017
15 Reads

Clinical and genetic characterization of Chinese pediatric cystine stone patients.

J Pediatr Urol 2017 Dec 24;13(6):629.e1-629.e5. Epub 2017 Jun 24.

Department of Urology, Jiangsu Province Hospital of Traditional Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, PR China.

Introduction: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries.

Objective: To investigate the characteristics of Chinese pediatric cystine stone patients. Read More

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December 2017
4 Reads

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

Clin Genet 2017 Dec 4;92(6):632-638. Epub 2017 Oct 4.

Service de Biochimie Hormonologie, APHP, Paris, France.

Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in 2 genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon (HEC) has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC group). Read More

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December 2017
3 Reads

Dietary and metabolomic determinants of relapse in ulcerative colitis patients: A pilot prospective cohort study.

World J Gastroenterol 2017 Jun;23(21):3890-3899

Ammar Hassanzadeh Keshteli, Floris F van den Brand, Karen L Madsen, Rosica Valcheva, Karen I Kroeker, Thomas Hoevers, Richard N Fedorak, Levinus A Dieleman, Department of Medicine, Division of Gastroenterology and CEGIIR, University of Alberta, Edmonton, AB T6G 2X8, Canada.

Aim: To identify demographic, clinical, metabolomic, and lifestyle related predictors of relapse in adult ulcerative colitis (UC) patients.

Methods: In this prospective pilot study, UC patients in clinical remission were recruited and followed-up at 12 mo to assess a clinical relapse, or not. At baseline information on demographic and clinical parameters was collected. Read More

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June 2017
14 Reads

[Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany].

Tierarztl Prax Ausg K Kleintiere Heimtiere 2017 Aug 6;45(4):265-272. Epub 2017 Jun 6.

Prof. Dr. U. Giger, Ryan Veterinary Hospital, 3900 Delancey Street, Philadelphia, PA 19104-6010, USA, Email:

Cystinuria is caused by defective proximal renal tubular reabsorption of the amino acids cystine, ornithine, lysine, and arginine (COLA). The low solubility of cystine in mildly acidic urine may lead to the formation of urinary cystine crystals and uroliths. Much progress has been made recently in the diagnosis and understanding of cystinuria in companion animals. Read More

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August 2017
9 Reads