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[PMID]: 29084614
[Au] Autor:Ranawaka R; Sirisena ND; Dayasiri KC; Cogal AG; Lieske JC; Gamage MP; Dissanayake VHW
[Ad] Address:Department of Paediatrics, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka. rrandula@yahoo.com.
[Ti] Title:The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.
[So] Source:BMC Res Notes;10(1):539, 2017 Oct 30.
[Is] ISSN:1756-0500
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. It is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This is the first report of a CLCN5 pathogenic variant in a Dent disease-1 family of Sri Lankan origin, and it highlights the value of genetic evaluation in children with refractory proteinuria. CASE PRESENTATION: A 2-year-old boy with non-nephrotic range proteinuria was referred for evaluation. His maternally related 24-year-old uncle had been investigated for similar features at the age of 14 years and his renal histology had shown few sclerosed glomeruli. He remained asymptomatic apart from proteinuria. Biochemical investigation of the child showed ß-2 microglobulinuria and hypercalciuria. After providing pre-test counseling and obtaining written informed consent, the child, his mother and maternal uncle underwent genetic testing for confirmation of the clinically suspected diagnosis of Dent disease-1. Both the child and his maternal uncle were found to be hemizygous for a nonsense pathogenic variant in exon 9 of the CLCN5 gene [NM_000084.4; c.1399C>T; rs797044811] which results in a stop codon at residue 467, leading to a truncated non-functional protein [NP_000075.1; p.R467X]. His mother was confirmed to be an unaffected heterozygous carrier for the same variant. Following confirmation of the diagnosis our patient was started on thiazide diuretics and potassium citrate. CONCLUSIONS: Even though the typical phenotype of Dent disease-1 often enables a clinical diagnosis to be made, less severe sub-clinical cases may go undiagnosed. The underlying diagnosis may be missed especially in children who are treated for non-minimal change nephrotic syndrome with steroids. This case highlights the need for tubular proteinuria to be considered in the differential diagnosis of children with refractory proteinuria and for appropriate genetic evaluation to be done to confirm the precise underlying diagnosis in such cases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:In-Process
[do] DOI:10.1186/s13104-017-2881-5

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[PMID]: 27981376
[Au] Autor:Johri N; Jaeger P; Ferraro PM; Shavit L; Nair D; Robertson WG; Gambaro G; Unwin RJ
[Ad] Address:UCL Centre for Nephrology, Department of Clinical Biochemistry, Royal Free Campus and Hospital, Rowland Hill Street, London, NW3 2PF, UK.
[Ti] Title:Vitamin D deficiency is prevalent among idiopathic stone formers, but does correction pose any risk?
[So] Source:Urolithiasis;45(6):535-543, 2017 Dec.
[Is] ISSN:2194-7236
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:While vitamin D (vitD) deficiency is thought to contribute to poor health in a variety of ways and should be corrected, there is still concern about giving vitD supplements to patients with a history of nephrolithiasis. The aim is to study the prevalence of vitD deficiency and the effect on stone risk of cholecalciferol (vitD3) supplementation in a cohort of idiopathic stone formers (ISF). We screened for vitD deficiency and urinary measures of stone risk, comparing vitD deficient (serum 25-OH vitD ≤30 nmol/L; ≤12 ng/mL) with vitD insufficient (31-75 nmol/L; 13-30 ng/mL) or vitD replete (>75 nmol/L; >30 ng/mL); we investigated the effect of giving vitD3 (20,000 IU orally, weekly for 4 months) to 37 of the vitD deficients. Thirty-one percent (142/456) were vitD deficient, 57% (259/456) vitD insufficient, and the rest (12%) vitD replete (55/456). Comparison among the groups showed that baseline 24-h urinary measures related to stone risk expressed as concentration ratios over urine creatinine (Cr), such as U. Calcium/Cr, U. Oxalate/Cr, U. Citrate/Cr, and U. Uric acid/Cr were not significantly different. VitD3 supplementation did significantly increase serum 25-OH vitD levels and U. Phosphate/Cr ratios, as well as reduce serum parathyroid hormone (PTH) concentrations. Following vitD3 supplementation, there was an overall rise in 24-h urine calcium excretion, but it failed to reach statistical significance (p = 0.06). U. Calcium/Cr increased in 22 out of 37 patients (average increase +0.07 mmol/mmol), decreased in 14 (average decrease -0.13 mmol/mmol), and remained unchanged in 1; 6 out of 26 initially normocalciuric ISF developed hypercalciuria; and 6 out of 9 patients who became vitD replete were hypercalciuric after supplementation. It is appropriate to monitor urinary Ca excretion in vitD-supplemented stone formers, because it may reveal underlying hypercalciuria in some treated patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1612
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:In-Process
[do] DOI:10.1007/s00240-016-0954-x

  3 / 3718 MEDLINE  
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[PMID]: 29090382
[Au] Autor:Ticinesi A; Guerra A; Allegri F; Nouvenne A; Cervellin G; Maggio M; Lauretani F; Borghi L; Meschi T
[Ad] Address:Department of Medicine and Surgery, University of Parma, Via Antonio Gramsci 14, 43126, Parma, Italy. andrea.ticinesi@unipr.it.
[Ti] Title:Determinants of calcium and oxalate excretion in subjects with calcium nephrolithiasis: the role of metabolic syndrome traits.
[So] Source:J Nephrol;, 2017 Oct 31.
[Is] ISSN:1724-6059
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:BACKGROUND: The association of metabolic syndrome (MetS) traits with urinary calcium (UCE) or oxalate excretion (UOE) is uncertain in calcium stone formers (CSFs). Our aim was to investigate this association in a large group of Caucasian CSFs. METHODS: We retrospectively reviewed data of CSFs evaluated at our Kidney Stone Clinic from 1984 to 2015. Data on body mass index (BMI), MetS traits defined according to international consensus, family history of urolithiasis, anti-hypertensive treatments, calcemia, renal function, and 24-h urinary profile of lithogenic risk were collected. The association between MetS traits and UCE or UOE was tested with multivariate linear regression models accounting for a long list of potential confounders. RESULTS: We included 3003 CSFs, aged 44 ± 14 years. The prevalence of hypertension, diabetes, overweight (BMI ≥ 25 kg/m ) and dyslipidemia was 17, 2, 42 and 38%, respectively. Median values of UCE and UOE were 211 mg/24 h (IQR 143-296) and 28 mg/24 h (IQR 22-34), respectively. At a multivariate model, including age, sex, date of examination, drug treatments, family history, renal function, blood calcium and urinary factors as covariates, hypertension was a significant positive determinant of UCE (ß ± SE 0.23 ± 0.07, p = 0.003), but overweight, dyslipidemia and diabetes were not. No MetS trait was significantly associated with UOE in multivariate models. CONCLUSIONS: In a large group of Caucasian CSFs, hypertension was the only MetS trait significantly associated with UCE, while no MetS trait was associated with oxalate excretion.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:Publisher
[do] DOI:10.1007/s40620-017-0453-3

  4 / 3718 MEDLINE  
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[PMID]: 29085969
[Au] Autor:Ergon EY; Akil IO; Taneli F; Oran A; Ozyurt BC
[Ad] Address:Department of Pediatrics, Celal Bayar University, Manisa, Turkey. yanginezgi@yahoo.com.
[Ti] Title:Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis.
[So] Source:Urolithiasis;, 2017 Oct 30.
[Is] ISSN:2194-7236
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:The incidence of urinary tract stones in infancy has been increasing in Turkey. Risk factors and vitamin D receptor (VDR) gene polymorphisms were investigated in infants aged < 1 year who had stones. Forty infants with urinary tract stones and 80 infants without stones, aged < 1 year were enrolled in this study. Detailed surveys were taken of all infants, metabolic parameters and ApaI and FokI VDR gene polymorphisms were investigated. Infants with stones tended to be more commonly fed formula and multivitamins (vitamins A, C, D) (p < 0.05). Positive family history came into prominence in the stony group (p < 0.05). There were no significant differences in ApaI and FokI VDR gene polymorphisms between the groups with stones and the control groups. However, CA genotype of ApaI polymorphism was associated with family history and C allele of ApaI was related with family history and hypercalciuria (p < 0.05). Hypercalciuria emerged as an underlying metabolic abnormality in the etiology of stones, and was observed at a rate of 38%. Infants who are given formula and multivitamins for vitamin D supplementation are at increased risk for the formation of urinary tract stones. VDR gene polymorphisms cause the formation of urinary tract stones and affect calcium (Ca) metabolism.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171031
[Lr] Last revision date:171031
[St] Status:Publisher
[do] DOI:10.1007/s00240-017-1009-7

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[PMID]: 28143656
[Au] Autor:Gabriel SS; Belge H; Gassama A; Debaix H; Luciani A; Fehr T; Devuyst O
[Ad] Address:Institute of Physiology, University of Zürich, Zürich, Switzerland; Division of Nephrology, University Hospital Zürich, Zürich, Switzerland.
[Ti] Title:Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.
[So] Source:Kidney Int;91(4):842-855, 2017 Apr.
[Is] ISSN:1523-1755
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently been shown to preserve kidney function in cystinosis, a lysosomal storage disease causing proximal tubule dysfunction. Here we test the effects of bone marrow transplantation in Clcn5 mice, a faithful model for Dent disease. Transplantation of wild-type bone marrow in Clcn5 mice significantly improved proximal tubule dysfunction, with decreased low-molecular-weight proteinuria, glycosuria, calciuria, and polyuria four months after transplantation, compared to Clcn5 mice transplanted with ClC-5 knockout bone marrow. Bone marrow-derived cells engrafted in the interstitium, surrounding proximal tubule cells, which showed a rescue of the apical expression of ClC-5 and megalin receptors. The improvement of proximal tubule dysfunction correlated with Clcn5 gene expression in kidneys of mice transplanted with wild-type bone marrow cells. Coculture of Clcn5 proximal tubule cells with bone marrow-derived cells confirmed rescue of ClC-5 and megalin, resulting in improved endocytosis. Nanotubular extensions between the engrafted bone marrow-derived cells and proximal tubule cells were observed in vivo and in vitro. No rescue was found when the formation of the tunneling nanotubes was prevented by actin depolymerization or when cells were physically separated by transwell inserts. Thus, bone marrow transplantation may rescue the epithelial phenotype due to an inherited endosomal defect. Direct contacts between bone marrow-derived cells and diseased tubular cells play a key role in the rescue mechanism.
[Mh] MeSH terms primary: Bone Marrow Transplantation
Chloride Channels/deficiency
Dent Disease/surgery
Kidney Tubules, Proximal/physiopathology
[Mh] MeSH terms secundary: Animals
Cell Communication
Cells, Cultured
Chloride Channels/genetics
Coculture Techniques
Dent Disease/genetics
Dent Disease/metabolism
Dent Disease/physiopathology
Disease Models, Animal
Endocytosis
Genetic Predisposition to Disease
Glycosuria/genetics
Glycosuria/metabolism
Glycosuria/physiopathology
Glycosuria/prevention & control
Hypercalciuria/genetics
Hypercalciuria/metabolism
Hypercalciuria/physiopathology
Hypercalciuria/prevention & control
Kidney Tubules, Proximal/metabolism
Kidney Tubules, Proximal/pathology
Low Density Lipoprotein Receptor-Related Protein-2/metabolism
Male
Mice, Inbred C57BL
Mice, Knockout
Phenotype
Polyuria/genetics
Polyuria/metabolism
Polyuria/physiopathology
Polyuria/prevention & control
Proteinuria/genetics
Proteinuria/metabolism
Proteinuria/physiopathology
Proteinuria/prevention & control
Recovery of Function
Transplantation Chimera
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (CLC-5 chloride channel); 0 (Chloride Channels); 0 (Low Density Lipoprotein Receptor-Related Protein-2); 0 (Lrp2 protein, mouse)
[Em] Entry month:1710
[Cu] Class update date: 171031
[Lr] Last revision date:171031
[Js] Journal subset:IM
[Da] Date of entry for processing:170201
[St] Status:MEDLINE

  6 / 3718 MEDLINE  
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[PMID]: 28139295
[Au] Autor:Khositseth S; Charngkaew K; Boonkrai C; Somparn P; Uawithya P; Chomanee N; Payne DM; Fenton RA; Pisitkun T
[Ad] Address:Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand. Electronic address: Sookkasem@yahoo.com.
[Ti] Title:Hypercalcemia induces targeted autophagic degradation of aquaporin-2 at the onset of nephrogenic diabetes insipidus.
[So] Source:Kidney Int;91(5):1070-1087, 2017 May.
[Is] ISSN:1523-1755
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hypercalcemia can cause renal dysfunction such as nephrogenic diabetes insipidus (NDI), but the mechanisms underlying hypercalcemia-induced NDI are not well understood. To elucidate the early molecular changes responsible for this disorder, we employed mass spectrometry-based proteomic analysis of inner medullary collecting ducts (IMCD) isolated from parathyroid hormone-treated rats at onset of hypercalcemia-induced NDI. Forty-one proteins, including the water channel aquaporin-2, exhibited significant changes in abundance, most of which were decreased. Bioinformatic analysis revealed that many of the downregulated proteins were associated with cytoskeletal protein binding, regulation of actin filament polymerization, and cell-cell junctions. Targeted LC-MS/MS and immunoblot studies confirmed the downregulation of 16 proteins identified in the initial proteomic analysis and in additional experiments using a vitamin D treatment model of hypercalcemia-induced NDI. Evaluation of transcript levels and estimated half-life of the downregulated proteins suggested enhanced protein degradation as the possible regulatory mechanism. Electron microscopy showed defective intercellular junctions and autophagy in the IMCD cells from both vitamin D- and parathyroid hormone-treated rats. A significant increase in the number of autophagosomes was confirmed by immunofluorescence labeling of LC3. Colocalization of LC3 and Lamp1 with aquaporin-2 and other downregulated proteins was found in both models. Immunogold electron microscopy revealed aquaporin-2 in autophagosomes in IMCD cells from both hypercalcemia models. Finally, parathyroid hormone withdrawal reversed the NDI phenotype, accompanied by termination of aquaporin-2 autophagic degradation and normalization of both nonphoshorylated and S256-phosphorylated aquaporin-2 levels. Thus, enhanced autophagic degradation of proteins plays an important role in the initial mechanism of hypercalcemic-induced NDI.
[Mh] MeSH terms primary: Aquaporin 2/metabolism
Autophagy
Diabetes Insipidus, Nephrogenic/physiopathology
Hypercalcemia/complications
Kidney Tubules, Collecting/physiopathology
[Mh] MeSH terms secundary: Animals
Chromatography, Liquid
Diabetes Insipidus, Nephrogenic/etiology
Diabetes Insipidus, Nephrogenic/metabolism
Dihydrotachysterol/toxicity
Disease Models, Animal
Down-Regulation
Fluorescent Antibody Technique
Half-Life
Humans
Hypercalcemia/chemically induced
Intercellular Junctions/metabolism
Intercellular Junctions/ultrastructure
Kidney Tubules, Collecting/metabolism
Lysosome-Associated Membrane Glycoproteins/metabolism
Male
Microscopy, Immunoelectron
Microtubule-Associated Proteins/metabolism
Parathyroid Hormone/pharmacology
Phosphorylation
Proteolysis
Proteomics/methods
Rats
Rats, Sprague-Dawley
Tandem Mass Spectrometry
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Aqp2 protein, rat); 0 (Aquaporin 2); 0 (LC3 protein, rat); 0 (Lamp1 protein, rat); 0 (Lysosome-Associated Membrane Glycoproteins); 0 (Microtubule-Associated Proteins); 0 (Parathyroid Hormone); R5LM3H112R (Dihydrotachysterol)
[Em] Entry month:1709
[Cu] Class update date: 171030
[Lr] Last revision date:171030
[Js] Journal subset:IM
[Da] Date of entry for processing:170131
[St] Status:MEDLINE

  7 / 3718 MEDLINE  
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[PMID]: 29074836
[Au] Autor:Minagawa M
[Ad] Address:Chiba Children's Hospital, Japan.
[Ti] Title:[Update on recent progress in vitamin D research. Vitamin D treatment for hypoparathyroidism.]
[So] Source:Clin Calcium;27(11):1623-1628, 2017.
[Is] ISSN:0917-5857
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract:The patients with hypoparathyroidism have been treated with active vitamin D(ie, alfacalcidol and calcitriol). Parathyroid hormone(PTH)increases extracellular calcium concentration partly through the activation of vitamin D, and active vitamin D corrects hypocalcemia mainly by increasing intestinal calcium abosorption. PTH coordinately increases blood calcium level with vitamin D in bone and kidney, however, renal tubular reabsorption of calcium is regulated by PTH-dependent mechanism. Hypercalciuria is an complication of long-term vitamin D treatment for PTH-deficient hypoparathyroidism.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:In-Data-Review
[do] DOI:CliCa171116231628

  8 / 3718 MEDLINE  
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[PMID]: 29069246
[Au] Autor:Garbim BB; D Ávila L; Rigatto SZP; Quadros KRDS; Belangero VMS; Oliveira RB
[Ad] Address:Universidade Estadual de Campinas.
[Ti] Title:Hypercalcemia in children: three cases report with unusual clinical presentations.
[So] Source:J Bras Nefrol;39(2):213-216, 2017 Apr-Jun.
[Is] ISSN:2175-8239
[Cp] Country of publication:Brazil
[La] Language:eng; por
[Ab] Abstract:Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis. The second patient had generalized lymphadenopathy and hepatosplenomegaly with fever a month ago. Paracoccidioides brasiliensis was identified in myelogram; the patient showed partial improvement with the use of co-trimoxazole, with subsequent emergence of multiple osteolytic lesions. A smear of gastric lavage was positive for Mycobacterium tuberculosis and the patient was treated with rifampicin, isoniazid, ethambutol and pyrazinamide, with improvement of clinical condition. The third patient was treated by hypercalciuria and idiopathic hypomagnesiuria with daily use of cholecalciferol; the patient had a two quilograms of weight loss in the past two months. No cause of hypercalcemia could be detected in laboratory workout. The capsules of cholecalciferol were analyzed and presented an amount of 832,000 IU of vitamin D per capsule. Acute hypercalcemia in childhood may be due to exogenous vitamin D intoxication, as well as infectious causes. The possible causal relationship between psittacosis and occurrence of hypercalcemia alert to the need for detailed investigation of the epidemiological antecedents.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1710
[Cu] Class update date: 171025
[Lr] Last revision date:171025
[St] Status:In-Process

  9 / 3718 MEDLINE  
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[PMID]: 28885621
[Au] Autor:Walker MD; Silverberg SJ
[Ad] Address:Division of Endocrinology, Department of Medicine, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.
[Ti] Title:Primary hyperparathyroidism.
[So] Source:Nat Rev Endocrinol;, 2017 Sep 08.
[Is] ISSN:1759-5037
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:In this Review, we describe the pathogenesis, diagnosis and management of primary hyperparathyroidism (PHPT), with a focus on recent advances in the field. PHPT is a common endocrine disorder that is characterized by hypercalcaemia and elevated or inappropriately normal serum levels of parathyroid hormone. Most often, the presentation of PHPT is asymptomatic in regions of the world where serum levels of calcium are routinely measured. In addition to mild hypercalcaemia, PHPT can manifest with osteoporosis and hypercalciuria as well as with vertebral fractures and nephrolithiasis, both of which can be asymptomatic. Other clinical forms of PHPT, such as classical disease and normocalcaemic PHPT, are less common. Parathyroidectomy, the only curative treatment for PHPT, is recommended in patients with symptoms and those with asymptomatic disease who are at risk of progression or have subclinical evidence of end-organ sequelae. Parathyroidectomy results in an increase in BMD and a reduction in nephrolithiasis. Various medical therapies can increase BMD or reduce serum levels of calcium, but no single drug can do both. More data are needed regarding the neuropsychological manifestations of PHPT and the pathogenetic mechanisms leading to sporadic PHPT, as well as on risk factors for complications of the disorder. Future work that advances our knowledge in these areas will improve the management of the disorder.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:Publisher
[do] DOI:10.1038/nrendo.2017.104

  10 / 3718 MEDLINE  
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[PMID]: 29061541
[Au] Autor:Policastro LJ; Saggi SJ; Goldfarb DS; Weiss JP
[Ad] Address:Dept. of Medicine, SUNY Downstate Medical Center. Electronic address: dr.lucas.policastro@gmail.com.
[Ti] Title:Personalized intervention in monogenic stone formers.
[So] Source:J Urol;, 2017 Oct 20.
[Is] ISSN:1527-3792
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: The treatment of a first-time renal stone episode consists of acute management followed by medical efforts to prevent stone recurrence. Though nephrolithiasis is roughly 50% heritable, the presence of a family history usually does not affect treatment, as most stone disease is regarded as polygenic, i.e. not attributable to a single gene. Recently, new evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than expected. This intriguing possibility holds the potential to change the management paradigm in stone prevention from metabolically-directed therapy to more specific approaches informed by genetic screening and testing. This review aims to synthesize new findings concerning monogenic kidney stone disease and provide a concise and clinically useful reference of monogenic causes. It is expected that increased awareness of these etiologies will eventually lead to increased utilization of genetic testing in recurrent stone formers and further research into the prevalence of monogenic stone disease. MATERIALS AND METHODS: A complete list of genes known to cause or influence nephrolithiasis was assembled from recent reviews and commentaries. We then comprehensively searched PubMed and Google Scholar for all research on each gene pertinent to their roles in nephrolithiasis. We determined which genes could be considered monogenic causes of nephrolithiasis. One gene, ALPL, was excluded, as nephrolithiasis is a relatively minor aspect of the disorder associated with the gene (hypophosphatasia). We summarized selected studies and assembled clinically relevant details. RESULTS: Twenty-seven genes were reviewed in terms of recent findings, mode of inheritance of stone disease, known or supposed prevalence of mutations in the general population of stone patients, and specific therapies or considerations. CONCLUSIONS: There is a distinct opportunity for the increased use of genetic testing in order to improve the lives of pediatric and adult stone patients. Several genes first reported in association with rare disease may be loci for novel mutations, heterozygous disease, and forme frustes as causes of stones in the broader population. Cases of idiopathic nephrolithiasis should be considered as potentially having a monogenic basis.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1710
[Cu] Class update date: 171024
[Lr] Last revision date:171024
[St] Status:Publisher


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