Database : MEDLINE
Search on : Nephrocalcinosis [Words]
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[PMID]: 29241624
[Au] Autor:Anders HJ; Suarez-Alvarez B; Grigorescu M; Foresto-Neto O; Steiger S; Desai J; Marschner JA; Honarpisheh M; Shi C; Jordan J; Müller L; Burzlaff N; Bäuerle T; Mulay SR
[Ad] Address:Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, Munich, Germany.
[Ti] Title:The macrophage phenotype and inflammasome component NLRP3 contributes to nephrocalcinosis-related chronic kidney disease independent from IL-1-mediated tissue injury.
[So] Source:Kidney Int;93(3):656-669, 2018 Mar.
[Is] ISSN:1523-1755
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Primary/secondary hyperoxalurias involve nephrocalcinosis-related chronic kidney disease (CKD) leading to end-stage kidney disease. Mechanistically, intrarenal calcium oxalate crystal deposition is thought to elicit inflammation, tubular injury and atrophy, involving the NLRP3 inflammasome. Here, we found that mice deficient in NLRP3 and ASC adaptor protein failed to develop nephrocalcinosis, compromising conclusions on nephrocalcinosis-related CKD. In contrast, hyperoxaluric wild-type mice developed profound nephrocalcinosis. NLRP3 inhibition using the ß-hydroxybutyrate precursor 1,3-butanediol protected such mice from nephrocalcinosis-related CKD. Interestingly, the IL-1 inhibitor anakinra had no such effect, suggesting IL-1-independent functions of NLRP3. NLRP3 inhibition using 1,3-butanediol treatment induced a shift of infiltrating renal macrophages from pro-inflammatory (CD45 F4/80 CD11b CX3CR1 CD206 ) and pro-fibrotic (CD45 F4/80 CD11b CX3CR1 CD206 TGFß ) to an anti-inflammatory (CD45 F4/80 CD11b CD206 TGFß ) phenotype, and prevented renal fibrosis. Finally, in vitro studies with primary murine fibroblasts confirmed the non-redundant role of NLRP3 in the TGF-ß signaling pathway for fibroblast activation and proliferation independent of the NLRP3 inflammasome complex formation. Thus, nephrocalcinosis-related CKD involves NLRP3 but not necessarily via intrarenal IL-1 release but rather via other biological functions including TGFR signaling and macrophage polarization. Hence, NLRP3 may be a promising therapeutic target in hyperoxaluria and nephrocalcinosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180224
[Lr] Last revision date:180224
[St] Status:In-Data-Review

  2 / 2657 MEDLINE  
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[PMID]: 29468561
[Au] Autor:Gambaro G; Goldfarb DS; Baccaro R; Hirsch J; Topilow N; D'Alonzo S; Gambassi G; Ferraro PM
[Ad] Address:Divisione di Nefrologia, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Via G. Moscati 31, 00168, Rome, Italy.
[Ti] Title:Chronic pain in medullary sponge kidney: a rare and never described clinical presentation.
[So] Source:J Nephrol;, 2018 Feb 21.
[Is] ISSN:1724-6059
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:Medullary sponge kidney (MSK) is a cause of nephrocalcinosis, associated with hematuria, renal colic, pyelonephritis. There are rare and atypical MSK cases characterized by chronic severe pain (CP), whose features are unknown, in particular the relationship with the stone disease activity. This study analyzes a cohort of MSK-CP patients belonging to three North-America self-support Facebook groups. Patients had to self-administer an on-line questionnaire (on intensity, progression and MSK-associated conditions, stone-related disease, pain features, drug use), the Brief Pain Inventory, the Fatigue Severity Score, and Wisconsin Quality of Life (WQL) in stone formers questionnaires. Ninety-two patients with a diagnosis of MSK joined our survey. Stone rate was very high (3.1 stones per patient-year, < 15% of patients had ≤ 1 stone per year). Most patients had repeated hospitalizations for stones symptoms (p < 0.001) or pain (p < 0.005). 71% of participants referred a daily pain that interfered strongly with everyday life and quality of life (WQL mean value 29.4). 69% used pain medications daily (70% opioids). In most cases, pain was associated with stone passage, while 15% referred a sine materia pain. We showed how MSK-CP symptoms affect very negatively on the quality of life of these patients. They also have a definite risk of progressing to end-stage kidney disease. Generally, CP seems to be associated with an exceptionally high lithogenic activity, suggesting that a better and earlier metabolic treatment for stone prevention should be the first approach in these patients before mini-invasive treatments to prevent pain.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher
[do] DOI:10.1007/s40620-018-0480-8

  3 / 2657 MEDLINE  
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[PMID]: 29244539
[Au] Autor:Dulz S; Bigdon E; Atiskova Y; Schuettauf F; Cerkauskiene R; Oh J; Brinkert F
[Ad] Address:a Department of Ophthalmology , University Medical Center Hamburg-Eppendorf , Hamburg , Germany.
[Ti] Title:Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.
[So] Source:Ophthalmic Genet;39(2):275-277, 2018 Apr.
[Is] ISSN:1744-5094
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations. MATERIALS AND METHODS: Two siblings, an 8-year-old boy and an 18-year-old girl, with genetically confirmed AGXT mutation (c.364C>T (p.R122X) and c.33dupC), but different renal phenotype underwent an ophthalmic examination, including slit-lamp examination and funduscopy as well as optical coherence tomography (OCT), near-infrared autofluorescence (NIA), and microperimetry examination. RESULTS: The 8-year-old boy presented with a best-corrected visual acuity (BCVA) of 20/630. Fundus examination revealed bilateral, whitish oxalate deposits and prominent fibrotic macular scars. OCT imaging illustrated hyperdense deposits in all retinal layers and the choroid and the vitreous body along with a prominent dome-shaped macular fibrosis. NIA imaging outlined macular retinal pigment epithelium (RPE) atrophy with panretinal hyperreflective material. Bilateral symptomatic epiphora was putatively due to bilateral depositions of palpable nodular oxalate deposits at the level of the lacrimal sac. In contrary, the 18-year-old sister presented without any signs of ocular oxalate deposition and a BCVA of 20/20. CONCLUSIONS: PH1 is potentially accompanied with a considerable decline in visual acuity due to macular scaring and fibrosis, whereas a profound variability of ocular manifestations can be observed in PH1 patients with identical genotypes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:In-Data-Review
[do] DOI:10.1080/13816810.2017.1413660

  4 / 2657 MEDLINE  
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[PMID]: 29460158
[Au] Autor:Ehlayel AM; Copelovitch L
[Ad] Address:Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19014-4339, USA.
[Ti] Title:Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.
[So] Source:Pediatr Nephrol;, 2018 Feb 19.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher
[do] DOI:10.1007/s00467-018-3912-8

  5 / 2657 MEDLINE  
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[PMID]: 29460157
[Au] Autor:Ehlayel AM; Copelovitch L
[Ad] Address:Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104-4339, USA.
[Ti] Title:Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Questions.
[So] Source:Pediatr Nephrol;, 2018 Feb 19.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher
[do] DOI:10.1007/s00467-018-3887-5

  6 / 2657 MEDLINE  
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[PMID]: 29460029
[Au] Autor:Chesher D; Oddy M; Darbar U; Sayal P; Casey A; Ryan A; Sechi A; Simister C; Waters A; Wedatilake Y; Lachmann RH; Murphy E
[Ad] Address:Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
[Ti] Title:Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
[So] Source:J Inherit Metab Dis;, 2018 Feb 19.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint replacement and decompressive laminectomy were observed in those older than 40 years. Dental disease (63%), nephrocalcinosis (42%), and hearing impairment (14%) were also common. The rarity of the disease and the large number of variants make it difficult to discern specific genotype-phenotype relationships. A new treatment, an anti-FGF23 antibody, that may affect the natural history of the disease is currently being investigated in clinical trials.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher
[do] DOI:10.1007/s10545-018-0147-6

  7 / 2657 MEDLINE  
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[PMID]: 29391272
[Au] Autor:Günthner R; Wagner M; Thurm T; Ponsel S; Höfele J; Lange-Sperandio B
[Ad] Address:Institute of Human Genetics, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany. Electronic address: roman.guenthner@mri.tum.de.
[Ti] Title:Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.
[So] Source:Gene;649:23-26, 2018 Apr 05.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Single exome sequencing revealed the pathogenic nonsense mutation p.(Arg98*) in the CLCN5 gene causing the X-linked inherited, renal tubular disorder Dent's disease. Furthermore, the two pathogenic and compound heterozygous missense variants p.(Gly47Ala) and p.(Pro251Leu) in the CECR1 gene could be identified. Mutations in the CECR1 gene are associated with a hereditary form of polyarteritis nodosa, called ADA2-deficiency. Both parents were carriers of a single heterozygous variant in CECR1 and the mother was carrier of the CLCN5 variant. This case evidently demonstrates the advantage of whole exome sequencing compared to single gene testing as the pathology in the CECR1 gene might have only been diagnosed after the occurrence of signs of systemic vasculitis like strokes or hemorrhages. Therefore, treatment and prevention can now start early to improve the outcome of these patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Process

  8 / 2657 MEDLINE  
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[PMID]: 29208768
[Au] Autor:Priante G; Quaggio F; Gianesello L; Ceol M; Cristofaro R; Terrin L; Furlan C; Del Prete D; Anglani F
[Ad] Address:Department of Medicine - DIMED, Kidney Histomorphology and Molecular Biology Laboratory, Clinical Nephrology, University of Padua, Padua, Italy giovanna.priante@unipd.it.
[Ti] Title:Caspase-independent programmed cell death triggers Ca PO deposition in an model of nephrocalcinosis.
[So] Source:Biosci Rep;38(1), 2018 02 28.
[Is] ISSN:1573-4935
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Nephrocalcinosis involves the deposition of microscopic crystals in the tubular lumen or interstitium. While the clinical, biochemical, and genetic aspects of the diseases causing nephrocalcinosis have been elucidated, little is known about the cellular events in this calcification process. We previously reported a phenomenon involving the spontaneous formation of Ca PO nodules in primary papillary renal cells from a patient with medullary nephrocalcinosis harboring a rare glial cell-derived neurotrophic factor ( ) gene variant. We also demonstrated that cultivating -silenced human kidney-2 (HK-2) cells in osteogenic conditions for 15 days triggered Ca PO deposits. Given the reportedly close relationship between cell death and pathological calcification, aim of the present study was to investigate whether apoptosis is involved in the calcification of -silenced HK-2 cells under osteogenic conditions. Silenced and control cells were cultured in standard and osteogenic medium for 1, 5, and 15 days, and any Ca PO deposition was identified by means of von Kossa staining and environmental SEM (ESEM) analyses. Based on the results of annexin V and propidium iodide (PI) analysis, and terminal deoxynucleotidyl transferase dUTP-biotin nick end labeling (TUNEL) assay, the silenced cells in the osteogenic medium showed a significant increase in the percentage of cells in the late phase of apoptosis and an increased Ca PO deposition at 15 days. The results of quantitative real-time PCR (qRT-PCR) of and , and in-cell Western analysis of caspases indicated that the cell death process was independent of caspase-3, -6, -7, and -9 activation, however. Using this model, we provide evidence of caspase-independent cell death triggering the calcification process in -silenced HK-2 cells.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1712
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Process

  9 / 2657 MEDLINE  
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[PMID]: 29456205
[Au] Autor:Rhuma NR; Fituri OA; Sabei LT
[Ad] Address:Department of Pediatrics and Faculty of Medicine, University of Tripoli, Tripoli, Libya.
[Ti] Title:Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.
[So] Source:Saudi J Kidney Dis Transpl;29(1):30-38, 2018 Jan-Feb.
[Is] ISSN:1319-2442
[Cp] Country of publication:Saudi Arabia
[La] Language:eng
[Ab] Abstract:Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from genetic mutation of the AGXT gene. The study objective was to verify the clinical and epidemiological patterns of PH1 in Libyan children at Tripoli Children Hospital confirmed by AGXT gene mutation. A descriptive case series study of 53 children with PH1 diagnosed between 1994 and 2015 was carried out in the Nephrology Unit at Tripoli Children Hospital. Diagnosis of PH1 was based on the clinical presentation (renal stones or nephrocalcinosis), positive family history of PH1, and high 24 h urinary oxalate. Sampling for AGXT gene mutation was collected from April 2012 to December. 2015. Among the 53 children included, males composed of 62.3% of patients. Their age at presentation ranged between two months and 20 years with a mean age of 55.4 ± 48 months. The parents of 81.1% of these patients had positive consanguinity. Forty (75.5%) patients were from South West (mountain area), and 16 (40%) of them were from Yefrin. The most common mutation found in this study was c.731T>C (p.lle244thr) seen in 32 (71%) of children, and interestingly, among these patients, 87.1% were homozygous in gene typing, 86.2% had positive history of consanguinity, 71.4% were from South West (mountain area), 96.6% had family history of PH1, and 20% presented with impaired renal function. The patients with this mutation were younger at presentation than that with other genes, and it was more prevalent among boys (61.3%). Thus, the most common gene mutation found in Libyan children with PH1 was c.731T>C (p.lle244thr) and this is more likely due to the strong genetic pooling caused by the high consanguinity rate which requires an extensive genetic counseling.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[St] Status:In-Data-Review
[do] DOI:10.4103/1319-2442.225202

  10 / 2657 MEDLINE  
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[PMID]: 29439260
[Au] Autor:Koruyucu M; Seymen F; Gencay G; Gencay K; Tuna EB; Shin TJ; Hyun HK; Kim YJ; Kim JW
[Ad] Address:Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey.
[Ti] Title:Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.
[So] Source:Nephron;, 2018 Feb 13.
[Is] ISSN:2235-3186
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIMS: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. METHODS: Complete oral and radiological examinations were performed for all participating family members. Renal examinations were performed using ultrasound. RESULTS: The teeth were evaluated for severe loss, and multiple eruption failures were evident from the clinical and radiological examinations. Unexpected extensive and fast crown resorption was found by radiological examination. Renal ultrasound revealed bilateral nephrocalcinosis in both affected individuals. Recessive FAM20A mutations can cause nephrocalcinosis in addition to the oral phenotype. CONCLUSION: AI patients with similar clinical phenotypes and FAM20A mutations should be examined for nephropathy even if they lack pertinent symptoms. Nephrology referral is warranted for patients who have clinical phenotypes related to AI-gingival fibromatosis even if they are not symptomatic.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:Publisher
[do] DOI:10.1159/000486607


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