Genetics of kidney stone disease

NICE Guideline - Renal and ureteric stones: assessment and management

(2019)   BJU INTERNATIONAL

Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population

(2019) Chizu Tanikawa et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

(2019) Sarah A. Howles et al.   Nature Communications

Familial risks in urolithiasis in the population of Sweden

(2018) Kari Hemminki et al.   BJU INTERNATIONAL

Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations

(2018) Nanyawan Rungroj et al.   CLINICAL GENETICS

Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial

(2018) Vidar O. Edvardsson et al.   European Journal of Internal Medicine

HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females

(2018) Haisong Lin et al.   GENE

Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population

(2018) Xiaoming Li et al.   Genetic Testing and Molecular Biomarkers

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias

(2018) Caroline M Gorvin et al.   HUMAN MOLECULAR GENETICS

A rational approach to the use of sophisticated genetic analyses of pediatric stone disease

(2018) Craig B. Langman   KIDNEY INTERNATIONAL

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

(2018) Ankana Daga et al.   KIDNEY INTERNATIONAL

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

(2018) Marta Alonso-Varela et al.   PEDIATRIC NEPHROLOGY

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

(2018) Marguerite Hureaux et al.   PEDIATRIC NEPHROLOGY

Uric acid stones, clinical manifestations and therapeutic considerations

(2018) Qi Ma et al.   POSTGRADUATE MEDICAL JOURNAL

Incomplete Distal Renal Tubular Acidosis and Kidney Stones

(2018) Daniel G. Fuster et al.   ADVANCES IN CHRONIC KIDNEY DISEASE

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers

(2018) Natasha Ng et al.   PEDIATRIC NEPHROLOGY

Sequence variants associating with urinary biomarkers

(2018) Stefania Benonisdottir et al.   HUMAN MOLECULAR GENETICS

A variant in a cis -regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones

(2017) Megan E. Ure et al.   HUMAN MUTATION

The Risk of Chronic Kidney Disease Associated with Urolithiasis and its Urological Treatments: A Review

(2017) Giovanni Gambaro et al.   JOURNAL OF UROLOGY

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

(2017) Viviana Palazzo et al.   KIDNEY INTERNATIONAL

Mutations in SLC26A1 Cause Nephrolithiasis

(2016) Heon Yung Gee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kidney Disease in Adenine Phosphoribosyltransferase Deficiency

(2016) Hrafnhildur Linnet Runolfsdottir et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Trends in urological stone disease: a 5-year update of hospital episode statistics

(2016) Hendrik Heers et al.   BJU INTERNATIONAL

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

(2016) D. A. Braun et al.   Clinical Journal of the American Society of Nephrology

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused byCLDN19gene mutations

(2016) Paulo Marcio Yamaguti et al.   JOURNAL OF MEDICAL GENETICS

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis

(2016) Fadil M Hannan et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis

(2016) John A. Sayer   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

In Silico Screening and Molecular Dynamic Study of Nonsynonymous Single Nucleotide Polymorphisms Associated with Kidney Stones in the SLC26A6 Gene

(2016) Xiuli Lu et al.   JOURNAL OF UROLOGY

Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment

(2016) Michael P. Whyte   Nature Reviews Endocrinology

Idiopathic hypercalciuria and formation of calcium renal stones

(2016) Fredric L. Coe et al.   Nature Reviews Nephrology

Orphan drug policies and use in pediatric nephrology

(2016) Diana Karpman et al.   PEDIATRIC NEPHROLOGY

CYP24A1Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

(2015) A. Molin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers

(2015) N. A. Dhayat et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

(2015) K. Hopp et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

(2015) K. P. Schlingmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Single Nucleotide Polymorphism (rs4236480) inTRPV5Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients

(2015) Anas Khaleel et al.   MEDIATORS OF INFLAMMATION

Common and rare variants associated with kidney stones and biochemical traits

(2015) Asmundur Oddsson et al.   Nature Communications

Diet and risk of kidney stones in the Oxford cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC)

(2014) Benjamin W. Turney et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

(2014) J. Halbritter et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

(2014) D. Dasgupta et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Medical Management of Kidney Stones: AUA Guideline

(2014) Margaret S. Pearle et al.   JOURNAL OF UROLOGY

Cystinuria—a urologist's perspective

(2014) Kay Thomas et al.   Nature Reviews Urology

Salt and nephrolithiasis

(2014) Andrea Ticinesi et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

(2014) Zenobia B. Mehta et al.   TRAFFIC

Hereditary Renal Hypouricemia: A New Role for Allopurinol?

(2013) Bhavna Bhasin et al.   AMERICAN JOURNAL OF MEDICINE

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient

(2013) Yue Chi et al.   BONE

Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

(2013) M. Andrew Nesbit et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hereditary causes of kidney stones and chronic kidney disease

(2013) Vidar O. Edvardsson et al.   PEDIATRIC NEPHROLOGY

Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion

(2013) Hakan R. Toka et al.   PLoS One

Peptides of Matrix Gla Protein Inhibit Nucleation and Growth of Hydroxyapatite and Calcium Oxalate Monohydrate Crystals

(2013) Maria Goiko et al.   PLoS One

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

(2013) C. M. Gorvin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Update on Oxalate Crystal Disease

(2013) Elizabeth C. Lorenz et al.   Current Rheumatology Reports

Vitamin D receptor gene (VDR) polymorphisms and the urolithiasis risk: an updated meta-analysis based on 20 case–control studies

(2013) Wentao Liu et al.   Urolithiasis

Association between polymorphisms in osteopontin gene (SPP1) and first episode calcium oxalate urolithiasis

(2013) Mohammad Reza Safarinejad et al.   Urolithiasis

Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family

(2012) Vickie Braithwaite et al.   BONE

A Woman with Recurrent Calcium Phosphate Kidney Stones

(2012) D. S. Goldfarb   Clinical Journal of the American Society of Nephrology

Prevalence of Kidney Stones in the United States

(2012) Charles D. Scales et al.   EUROPEAN UROLOGY

A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population

(2012) Xiuli Lu et al.   GENE

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

(2012) P. Cochat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1

(2012) Yuji Urabe et al.   PLoS Genetics

Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis

(2011) C. G. Monico et al.   Clinical Journal of the American Society of Nephrology

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

(2011) Karl P. Schlingmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

(2011) Hannsjörg W. Seyberth et al.   PEDIATRIC NEPHROLOGY

Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria

(2011) Travis J. Riedel et al.   PLoS One

Clinical and Functional Characterization of URAT1 Variants

(2011) Velibor Tasic et al.   PLoS One

Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria

(2010) Angel L. Pey et al.   AMINO ACIDS

The impact of osteopontin promoter polymorphisms on the risk of calcium urolithiasis

(2010) Chia-Chu Liu et al.   CLINICA CHIMICA ACTA

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

(2010) Jochen Reiss et al.   HUMAN MUTATION

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

(2010) Paul A. Dawson et al.   JOURNAL OF CLINICAL INVESTIGATION

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

(2010) G. Bollee et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Dent's disease

(2010) Olivier Devuyst et al.   Orphanet Journal of Rare Diseases

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

(2010) Radovan Bogdanović et al.   PEDIATRIC NEPHROLOGY

Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

(2010) Daniel F. Gudbjartsson et al.   PLoS Genetics

Diet, Fluid, or Supplements for Secondary Prevention of Nephrolithiasis: A Systematic Review and Meta-Analysis of Randomized Trials

(2009) Howard A. Fink et al.   EUROPEAN UROLOGY

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

(2009) D. Dinour et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

(2009) Gudmar Thorleifsson et al.   NATURE GENETICS

TRPV5 gene polymorphisms in renal hypercalciuria

(2009) K. Y. Renkema et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium

(2009) J. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

(2008) Hirotaka Matsuo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effect of Hydrochlorothiazide on Urinary Calcium Excretion in Dent Disease: An Uncontrolled Trial

(2008) Anne Blanchard et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

(2008) D. Bockenhauer et al.   Clinical Journal of the American Society of Nephrology

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation

(2008) Yoshiro Suzuki et al.   HUMAN MOLECULAR GENETICS

In This Issue

(2008)   JOURNAL OF CLINICAL INVESTIGATION

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

(2008) A. G.H. Janssen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

NHERF1Mutations and Responsiveness of Renal Parathyroid Hormone

(2008) Zoubida Karim et al.   NEW ENGLAND JOURNAL OF MEDICINE