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Nephrocalcinosis

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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
#1
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
#2
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
https://www.readbyqxmd.com/read/29021995/tumor-induced-osteomalacia
#3
Pablo Florenzano, Rachel I Gafni, Michael T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1α-hydroxylation of 25 hydroxyvitamin D, thus producing hypophosphatemia and osteomalacia. Lesions are typically small, benign mesenchymal tumors that may be found in bone or soft tissue, anywhere in the body...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/28994037/pathophysiology-diagnosis-and-treatment-of-inherited-distal-renal-tubular-acidosis
#4
REVIEW
Nilufar Mohebbi, Carsten A Wagner
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Mutations in SLC4A1-(AE1) are inherited either in an autosomal dominant manner or in a recessive one. ATP6V1B and ATP6V0A4 mutations affect two different subunits of the vacuolar H(+)-ATPase proton-pump, the B1 and a4 subunits, and are inherited in an autosomal recessive manner...
October 9, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28993435/impact-of-intercurrent-illness-on-calcium-homeostasis-in-children-with-hypoparathyroidism-a-case-series
#5
A Chinoy, M Skae, A Babiker, D Kendall, M Z Mughal, R Padidela
BACKGROUND: Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in children with hypoparathyroidism. METHODS: We describe three children with hypoparathyroidism in whom intercurrent illnesses led to hypocalcaemia and escalation of treatment with alfacalcidol (1-hydroxycholecalciferol) and calcium supplements...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28984812/factors-associated-with-diffusely-increased-renal-uptake-of-tc-99m-diphosphono-propanedicarboxylic-acid-on-bone-scintigraphy-in-patients-with-end-stage-renal-disease
#6
Keunyoung Kim, Seong-Jang Kim, Sang H Song, In-Joo Kim, Kyoungjune Pak, So J Kim, Senghyeon Shin, Bum S Kim
OBJECTIVE: We aimed to determine the factors contributing toward diffusely increased renal uptake on bone scintigraphy using technetium-99m (Tc-99m) diphosphono-propanedicarboxylic acid (DPD) in patients with end-stage renal disease. PATIENTS AND METHODS: One-hundred and forty-three bone scintigraphies, performed between June 2007 and July 2013, in 135 patients with chronic kidney disease were analyzed retrospectively, including 22 bone scintigraphies (15 patients; eight women; seven men) with glomerular filtration rates less than 15 ml/min/1...
October 3, 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28984299/medical-renal-diseases-are-frequent-but-often-unrecognized-in-adult-autopsies
#7
Marie E Perrone, Anthony Chang, Kammi J Henriksen
Kidney diseases affect many hospitalized patients and contribute to morbidity and mortality. Therefore, kidney disease should be prevalent, but the frequency and spectrum of medical renal pathology in autopsy specimens has not been well documented. We sought to determine the spectrum of medical renal pathology in adult autopsy specimens and the frequency of overlooked diagnoses. We reviewed the hematoxylin- and eosin-stained kidney sections from 140 adult autopsies performed at a large teaching hospital over a 2-year period...
October 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28980857/oral-administration-of-oxalate-enriched-spinach-extract-as-an-improved-methodology-for-the-induction-of-dietary-hyperoxaluric-nephrocalcinosis-in-experimental-rats
#8
Abhishek Albert, Vidhi Tiwari, Eldho Paul, Sasikumar Ponnusamy, Divya Ganesan, Rajkumar Prabhakaran, Selvi Mariaraj Sivakumar, Selvam Govindan Sadasivam
Experimental induction of hyperoxaluria by ethylene glycol (EG) administration is disapproved as it causes metabolic acidosis while the oral administration of chemically synthesized potassium oxalate (KOx) diet does not mimic our natural system. Since existing models comprise limitations, the present study is aimed to develop an improved model for the induction of dietary hyperoxaluria and nephrocalcinosis in experimental rats by administration of naturally available oxalate rich diet. Male albino Wistar rats were divided into five groups...
October 5, 2017: Toxicology Mechanisms and Methods
https://www.readbyqxmd.com/read/28979772/late-onset-bartter-syndrome-type-ii
#9
Benjamin Gollasch, Yoland-Marie Anistan, Sima Canaan-Kühl, Maik Gollasch
Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c...
October 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28969594/identification-of-compound-heterozygous-patients-with-primary-hyperoxaluria-type-1-clinical-evaluations-and-in-silico-investigations
#10
Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent renal failure if treatment is not initiated promptly. Mutations in the AGXT gene which encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase are responsible of PH1. In the present work, we aimed to analyze AGXT gene and in silico investigations performed in four patients with PH1 among two non consanguineous families...
October 2, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28943803/primary-hyperoxaluria-detected-by-bone-marrow-biopsy-case-report
#11
F Nachite, M Dref, A Fakhri, H Rais
BACKGROUND: Primary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow. The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions. CASE PRESENTATION: A young 22 year old chronic hemodialysis patient with nephrocalcinosis...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28937064/nephrocalcinosis-among-children-at-king-hussein-medical-center-causes-and-outcome
#12
Jwaher T Al-Bderat, Reham I Mardinie, Ghazi M Salaita, Amer T Al-Bderat, Mahdi K Farrah
Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up. Thirty-five (55.5%) cases were males and 28 (44.5%) were females. The median (range) age at presentation was four (2-192) months...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28912999/tacrolimus-aggravated-tube-feeding-syndrome-with-acute-renal-failure-in-a-pediatric-liver-transplant-recipient
#13
R Kula, M Melter, J Kunkel, C Dörfler, S Alikadic, B Knoppke, R Zant
Acute renal failure can be caused by calcineurin inhibitors (CNIs), due to arteriolopathy and altered tubular function. Within this context, we present the case of a 14-month-old liver transplant recipient who suffered an acute polyuric renal failure during a short episode of hypercaloric feeding. In our case, CNI-induced distal RTA led to nephrocalcinosis and therefore to secondary nephrogenic diabetes insipidus. The diet with high renal solute load consequently resulted in an acute polyuric renal failure with severe hypernatremic dehydration...
2017: Case Reports in Transplantation
https://www.readbyqxmd.com/read/28904442/renal-cysts-and-nephrocalcinosis-in-11-beta-hydroxylase-deficiency
#14
M C Abdulla, R Narayan, S Ahamed
No abstract text is available yet for this article.
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28904440/primary-hyperoxaluria-type-1-with-homozygosity-for-a-double-mutated-agxt-allele-in-a-2-year-old-child
#15
S Krishnamurthy, G B Kartha, V S Venkateswaran, M Prasannakumar, S Mahadevan, M Gowda, A Pelle, D Giachino
Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two missense mutations in the AGXT gene was found: first, a C to G transversion (c. 32C>G) in exon 1 resulting in the amino acid substitution p.Pro11Arg; second, a T to A transversion (c. 167T>A) in exon 2 resulting in p...
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28904439/association-of-amelogenesis-imperfecta-and-bartter-s-syndrome
#16
A C V Kumar, V Alekya, M S V V Krishna, K Alekya, M Aruna, M H K Reddy, B Sangeetha, R Ram, V S Kumar
Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28893421/whole-exome-sequencing-frequently-detects-a-monogenic-cause-in-early-onset-nephrolithiasis-and%C3%A2-nephrocalcinosis
#17
Ankana Daga, Amar J Majmundar, Daniela A Braun, Heon Yung Gee, Jennifer A Lawson, Shirlee Shril, Tilman Jobst-Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jillian K Warejko, Eugen Widmeier, Caleb P Nelson, Hanan M Fathy, Zoran Gucev, Neveen A Soliman, Seema Hashmi, Jan Halbritter, Margarita Halty, Jameela A Kari, Sherif El-Desoky, Michael A Ferguson, Michael J G Somers, Avram Z Traum, Deborah R Stein, Ghaleb H Daouk, Nancy M Rodig, Avi Katz, Christian Hanna, Andrew L Schwaderer, John A Sayer, Ari J Wassner, Shrikant Mane, Richard P Lifton, Danko Milosevic, Velibor Tasic, Michelle A Baum, Friedhelm Hildebrandt
The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes known to cause nephrolithiasis/nephrocalcinosis. To overcome the limitations of panel sequencing, we utilized whole exome sequencing in 51 families, who presented before age 25 years with at least one renal stone or with a renal ultrasound finding of nephrocalcinosis to identify the underlying molecular genetic cause of disease...
September 8, 2017: Kidney International
https://www.readbyqxmd.com/read/28893306/monitored-supplementation-of-vitamin-d-in-preterm-infants-mosvid-trial-study-protocol-for-a-randomised-controlled-trial
#18
Alicja Kołodziejczyk, Maria K Borszewska-Kornacka, Joanna Seliga-Siwecka
BACKGROUND: The pivotal role of vitamin D (vit D) in skeletal health is well known. Neonatal vit D storage at birth is dependent on maternal levels, and newborns receive 50-70% of their mother's 25-hydroxyvitamin D [25(OH)D]. Deficiency of vit D can lead to prematurity bone disease, with an incidence of up to 55% in infants weighing < 1000 g. The aim of this study is to assess the effectiveness of monitored supplementation of vit D in a population of preterm infants. METHODS/DESIGN: Preterm infants born at 24-32 weeks of gestation will be recruited within the first 7 days of life...
September 11, 2017: Trials
https://www.readbyqxmd.com/read/28874334/girl-with-idiopathic-childhood-hypercalcemia-reveals-new-disease-causing-cyp24a1-mutation
#19
Jens Otto Broby Madsen, Sabrina Sauer, Bodo Beck, Jesper Johannesen
CONTEXT: Idiopathic Infantile Hypercalcemia (IHH) was associated with vitamin-D supplementation in the 1950's. 50 years later mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. CASE DESCRIPTION: We hereby report a case of a 21 months old girl initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia, borderline high vitamin-D levels, and renal ultrasound revealed medullary nephrocalcinosis...
September 6, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28857066/hypoparathyroidism
#20
REVIEW
Michael Mannstadt, John P Bilezikian, Rajesh V Thakker, Fadil M Hannan, Bart L Clarke, Lars Rejnmark, Deborah M Mitchell, Tamara J Vokes, Karen K Winer, Dolores M Shoback
Hypoparathyroidism is a disease characterized by inadequately low circulating concentrations of parathyroid hormone (PTH) resulting in low calcium levels and increased phosphate levels in the blood. Symptoms of the disease result from increased neuromuscular irritability caused by hypocalcaemia and include tingling, muscle cramps and seizures. The most common cause of the disease is inadvertent removal of, or injury to, the parathyroid glands during neck surgery, followed by genetic, idiopathic and autoimmune aetiologies...
August 31, 2017: Nature Reviews. Disease Primers
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