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Nephrocalcinosis

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https://www.readbyqxmd.com/read/29244539/genotype-phenotype-variability-of-retinal-manifestation-in-primary-hyperoxaluria-type-1
#1
S Dulz, E Bigdon, Y Atiskova, F Schuettauf, R Cerkauskiene, J Oh, F Brinkert
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...
December 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29241624/the-macrophage-phenotype-and-inflammasome-component-nlrp3-contributes-to-nephrocalcinosis-related-chronic-kidney-disease-independent-from-il-1-mediated-tissue-injury
#2
Hans-Joachim Anders, Beatriz Suarez-Alvarez, Melissa Grigorescu, Orestes Foresto-Neto, Stefanie Steiger, Jyaysi Desai, Julian A Marschner, Mohsen Honarpisheh, Chongxu Shi, Jutta Jordan, Lisa Müller, Nicolai Burzlaff, Tobias Bäuerle, Shrikant R Mulay
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...
December 11, 2017: Kidney International
https://www.readbyqxmd.com/read/29234503/study-protocol-for-a-phase-ii-dose-evaluation-randomized-controlled-trial-of-cholecalciferol-in-critically-ill-children-with-vitamin-d-deficiency-vitdal-picu-study
#3
Dayre McNally, Karin Amrein, Katharine O'Hearn, Dean Fergusson, Pavel Geier, Matt Henderson, Ali Khamessan, Margaret L Lawson, Lauralyn McIntyre, Stephanie Redpath, Hope A Weiler, Kusum Menon
Background: Clinical research has recently demonstrated that vitamin D deficiency (VDD) is highly prevalent in the pediatric intensive care unit (PICU) and associated with worse clinical course. Multiple adult ICU trials have suggested that optimization of vitamin D status through high-dose supplementation may reduce mortality and improve other clinically relevant outcomes; however, there have been no trials of rapid normalization in the PICU setting. The objective of this study is to evaluate the safety and efficacy of an enteral weight-based cholecalciferol loading dose regimen in critically ill children with VDD...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/29208768/caspase-independent-programmed-cell-death-triggers-ca2po4-deposition-in-an-in-vitro-model-of-nephrocalcinosis
#4
Giovanna Priante, Federica Quaggio, Lisa Gianesello, Monica Ceol, Rosalba Cristofaro, Liliana Terrin, Claudio Furlan, Dorella Del Prete, Franca Anglani
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 Ca2PO4 nodules in primary papillary renal cells from a patient with medullary nephrocalcinosis harboring a rare GDNF gene variant. We also demonstrated that cultivating GDNF -silenced HK-2 cells in osteogenic conditions for 15 days triggered Ca2PO4 deposits...
December 5, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29202719/an-in-vitro-splicing-assay-reveals-the-pathogenicity-of-a-novel-intronic-variant-in-atp6v0a4-for-autosomal-recessive-distal-renal-tubular-acidosis
#5
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences...
December 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29178965/a-child-with-distal-type-1-renal-tubular-acidosis-presenting-with-progressive-gross-motor-developmental-regression-and-acute-paralysis
#6
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage
BACKGROUND: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Though persistent hypokalemia is frequently seen in dRTA, hypokalemic muscular paralysis is uncommon and rarely described in children...
November 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29163645/hypervitaminosis-d3-in-broiler-chicks-histopathological-immunomodulatory-and-immunohistochemical-approach
#7
R Kumar, R S Brar, H S Banga
The present study was undertaken to investigate the toxic effects of higher doses (1,00,000 IU i.e. 2.5 mg/kg body weight (BW)) of vitamin D3, concomitantly with bacterial endotoxins (lipopolysaccharides: LPS) to study the immunomodulatory potential of vitamin D3 in IBL-80 broiler chicks. The chicks were divided into four groups [group I (NSS), group II (LPS), group III (Vit. D3 + NSS), and group IV (Vit. D3 + LPS)] containing eight chicks in each group, treated accordingly for 21 days. Birds were kept under close observation for apparent clinical signs and symptoms...
2017: Iranian Journal of Veterinary Research
https://www.readbyqxmd.com/read/29160109/editorial-comment-on-end-2017-0618-or-r1
#8
Mordechai Duvdevani
Percutaneous nephrolithotomy (PCNL) is currently the treatment of choice for large and complex renal calculi. One of the main advantages of PCNL is gaining a real stone-free status in a single session. However, there are several major complications that necessitate careful patient selection for this surgery (1). In this well written manuscript the authors deal with the true rates and importance of residual fragments following PCNL surgeries done in a high volume center. They reviewed 658 PCNL procedures from 2008-2013 that underwent a CT scan on post-operative day one...
November 21, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/29152298/medullary-nephrocalcinosis-in-idiopathic-hypercalciuria
#9
Abhilash Koratala, Vikrampal Bhatti
Idiopathic hypercalciuria is a metabolic abnormality characterized by excessive calcium excretion in the urine with normal serum calcium levels and is a common risk factor for formation of kidney stones and/or nephrocalcinosis. These patients benefit from a normal-calcium, reduced-animal protein, and low-salt diet, along with a thiazide diuretic.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#10
Shatha Murad, Yuval Eisenberg
OBJECTIVE: Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder of oxalate overproduction. It is associated with urolithiasis and nephrocalcinosis which progress to ESRD and systemic oxalosis. As oxalate deposits in tissues, non-parathyroid hormone (nonPTH) mediated hypercalcemia, oxalate osteopathy, primary hypothyroidism and primary hypogonadism develop. In this review, we will present a case of PH1 and provide an overview of this clinical entity and its endocrine manifestations...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29141924/antenatal-bartter-syndrome-presenting-with-vomiting-and-constipation-mimicking-subacute-intestinal-obstruction-in-a-20-day-old-neonate
#11
Ibtihal Siddiq Abdelgadir, Fawzia Elgharbawy, Khalil Mohamad Salameh, Baha Eldin Juma
Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29129401/deletion-of-claudin-10-rescues-claudin-16-deficient-mice-from-hypomagnesemia-and-hypercalciuria
#12
Tilman Breiderhoff, Nina Himmerkus, Hoora Drewell, Allein Plain, Dorothee Günzel, Kerim Mutig, Thomas E Willnow, Dominik Müller, Markus Bleich
The tight junction proteins claudin-10 and -16 are crucial for the paracellular reabsorption of cations along the thick ascending limb of Henle's loop in the kidney. In patients, mutations in CLDN16 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, while mutations in CLDN10 impair kidney function. Mice lacking claudin-16 display magnesium and calcium wasting, whereas absence of claudin-10 results in hypermagnesemia and interstitial nephrocalcinosis. In order to study the functional interdependence of claudin-10 and -16 we generated double-deficient mice...
November 10, 2017: Kidney International
https://www.readbyqxmd.com/read/29108501/occult-massive-visceral-fat-necrosis-following-therapeutic-hypothermia-for-neonatal-encephalopathy
#13
Salwa Khedr, Anna Piskorski, Adrienne R Bingham, Justin Goldstein, Abbot R Laptook, Monique E De Paepe
Therapeutic hypothermia (head or whole-body cooling) improves survival and neurodevelopmental outcome in term newborns with moderate-to-severe encephalopathy. Hypothermia treatment is well tolerated; the most common side effect is thrombocytopenia. In about 1% of infants, focal subcutaneous fat necrosis has been reported. We describe a case of clinically unsuspected massive visceral fat necrosis in a term infant with Apgar score 0 at 1 min ("resuscitated apparently stillborn" infant) who was treated with therapeutic hypothermia for 72 h and expired on the 25th day of life following a neonatal course complicated by severe encephalopathy, pulmonary artery hypertension, persistent thrombocytopenia, hypoglycemia, and severe basal ganglia-thalamic abnormalities on magnetic resonance imaging...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29106285/liver-kidney-simultaneous-transplantation-in-adult-patients-with-primary-hyperoxaluria-experience-at-hospital-universitario-12-de-octubre
#14
Javier Martínez Caballero, Alberto Marcacuzco Quinto, Iago Justo Alonso, Oana Anisa Nutu, Alejandro Manrique Municio, Jorge Calvo Pulido, Félix Cambra Molero, Óscar Caso Maestro, Carlos Jiménez Romero
Primary hyperoxaluria (PH) is a metabolic liver disease with an autosomal recessive inheritance that results in oxalate overproduction that cannot be metabolized by the liver. Urinary excretion of oxalate results in lithiasis and nephrocalcinosis leading to a progressive loss of renal function that often requires renal replacement therapy despite medical treatment. Type 1 PH is the most common form and is due to a deficiency in the alanine-glycolate aminotransferase enzyme found in hepatic peroxisomes. Therefore, a liver-kidney simultaneous transplant (LKST) is the definitive treatment for end-stage renal disease (ESRD) patients...
November 6, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29102553/type-1-primary-hyperoxaluria-a-case-report-and-focus-on-bone-impairment-of-systemic-oxalosis
#15
L Pijnenburg, S Caillard, G Boivin, S Rizzo, R M Javier
Primary hyperoxaluria is a rare genetic disorder characterized by oxalate overproduction, leading to kidney failure due to nephrocalcinosis, and is eventually responsible for systemic oxalosis. Bone impairment, secondary to oxalate deposits, is one of the many complications that may occur. Skeletal involvement can be difficult to diagnose because of lack of clinical symptoms and therefore needs to be confirmed by invasive testing, such as transiliac bone biopsy. If confirmed, bone oxalosis is the proof of disease severity and that combined liver-kidney transplantation should be performed...
November 1, 2017: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/29084614/the-first-sri-lankan-family-with-dent-disease-1-due-to-a-pathogenic-variant-in-the-clcn5-gene-a-case-report
#16
Randula Ranawaka, Nirmala Dushyanthi Sirisena, Kavinda Chandimal Dayasiri, Andrea G Cogal, John C Lieske, Manoji Prabashini Gamage, Vajira H W Dissanayake
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...
October 30, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29080636/genetic-diseases-of-vitamin-d-metabolizing-enzymes
#17
REVIEW
Glenville Jones, Marie Laure Kottler, Karl Peter Schlingmann
Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1α-hydroxylase, and 24-hydroxylase) involved in the activation of vitamin D3 to the hormonal form, 1,25-(OH)2D3, and the inactivation of 1,25-(OH)2D3 to biliary excretory products. Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)2D3 synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)2D3 and result in hypercalcemia, nephrolithiasis, and nephrocalcinosis...
December 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29077646/high-incidence-of-proteinuria-in-children-with-chronic-intestinal-failure-under-long-term-parenteral-nutrition
#18
Heiko Billing, Anna Traunspurger, Ekkehard Sturm, Andreas Busch
Long-term home parenteral nutrition (LTPN) in children with chronic intestinal failure (CIF) is associated with renal complications such as fluid and electrolyte imbalances, nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD). The etiology of CIF-associated nephropathy is multifactorial. The aim of this study was to evaluate renal involvement under LTPN. In this study 50 patients with CIF, median age 4.2 years (1.4 - 9.3, 23 female) were included. Kidney involvement was a frequent finding in this study...
October 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#19
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#20
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
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