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Nephrocalcinosis

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https://www.readbyqxmd.com/read/30242165/architecture-guided-fluid-flow-directs-renal-biomineralization
#1
Sunita P Ho, Ling Chen, Frances I Allen, Ryan S Hsi, Alex R Shimotake, Scott V Wiener, Misun Kang, Andrew M Minor, Marshall L Stoller
Nephrocalcinosis often begins on a calcium phosphate deposit, at the tip of the medullo-papillary complex (MPC) known as Randall's plaque (RP). Contextualizing proximally observed biominerals within the MPC has led us to postulate a mechanobiological switch that can trigger interstitial biomineralization at the MPC tip, remote from the intratubular biominerals. Micro X-ray computed tomography scans of human MPCs correlated with transmission and scanning electron micrographs, and X-ray energy dispersive spectrometry demonstrated novel findings about anatomically-specific biominerals...
September 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30230413/clinical-and-genetic-analysis-of-distal-renal-tubular-acidosis-in-three-chinese-children
#2
Jiaojiao Liu, Qian Shen, Guomin Li, Yihui Zhai, Xiaoyan Fang, Hong Xu
OBJECTIVE: Primary distal renal tubular acidosis (dRTA) is a rare genetic disease characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine. Growth retardation is a major concern in these children. The disease is caused by defects in at least three genes (SLC4A1, ATP6V0A4, and ATP6V1B1) involved in urinary distal acidification. Several series of dRTA patients from different ethnic backgrounds have been genetically studied, but genetic studies regarding Chinese population is rare...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/30227399/rare-cause-of-infantile-hypercalcemia-a-novel-mutation-in-the-slc34a1-gene
#3
Erdal Kurnaz, Şenay Savaş Erdeve, Semra Çetinkaya, Zehra Aycan
BACKGROUND: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis. METHODS: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement...
September 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30219757/twelve-year-old-boy-presenting-with-recurrent-abdominal-pain-and-25-urinary-calculi
#4
Mario Diplomatico, Pierluigi Marzuillo, Daniela Capalbo, Michela Stanco, Rosaria Marotta, Stefano Guarino
: A 12-year-old boy, with intermittent abdominal pain from 3 years of age, presented with increased frequency of right lower quadrant pain (at least three episodes per week over the past six months) and pain during micturition affecting school attendance. His family history included referred urolithiasis. An abdominal ultrasound performed 1 year before our visit showed a small stone of 4 mm in the right renal pelvis for which he did not receive any therapy. The patient brought 25 hard stones with irregular outline, 2-8 mm in diameter, of deep brown/grey colour that he claimed to have found in his underwear (figure 1)...
September 15, 2018: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/30191413/ultrasound-and-color-doppler-applications-in-chronic-kidney-disease
#5
REVIEW
Ilaria Petrucci, Anna Clementi, Concetto Sessa, Irene Torrisi, Mario Meola
Chronic kidney disease (CKD) includes all clinical features and complications during the progression of various kidney conditions towards end-stage renal disease (ESRD). These conditions include immune and inflammatory disease such as: primary and hepatitis C virus (HCV)-related glomerulonephritis; infectious disease such as pyelonephritis with or without reflux and tuberculosis; vascular disease such as chronic ischemic nephropathy; hereditary and congenital disease such as polycystic disease and congenital cystic dysplasia; metabolic disease including diabetes and hyperuricemia; and systemic disease (collagen disease, vasculitis, myeloma)...
September 6, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/30178239/structural-renal-abnormalities-in-the-dicer1-syndrome-a-family-based-cohort-study
#6
Nicholas E Khan, Alexander Ling, Molly E Raske, Laura A Harney, Ann G Carr, Amanda Field, Anne K Harris, Gretchen M Williams, Louis P Dehner, Yoav H Messinger, D Ashley Hill, Kris Ann P Schultz, Douglas R Stewart
BACKGROUND: The DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural kidney and collecting system anomalies. We investigated renal function and the frequency of structural abnormalities of the kidney and collecting system in individuals with germline loss-of-function variants in DICER1. METHODS: In this family-based cohort study, prospectively ascertained germline DICER1-mutation carriers (DICER1-carriers) and unaffected family controls were evaluated at the National Institutes of Health Clinical Center with renal ultrasound and comprehensive laboratory testing...
September 3, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/30172310/designer-probiotic-lactobacillus-plantarum-expressing-oxalate-decarboxylase-developed-using-group-ii-intron-degrades-intestinal-oxalate-in-hyperoxaluric-rats
#7
Eldho Paul, Abhishek Albert, Sasikumar Ponnusamy, Srishti Rajkumar Mishra, Amalraj Ganesh Vignesh, Selvi Mariaraj Sivakumar, Gomathi Sivasamy, Selvam Govindan Sadasivam
Increased intestinal absorption of oxalate causes hyperoxaluria, a major risk factor for kidney stone disease. Intestinal colonization of recombinant probiotic bacteria expressing oxalate-degrading gene (OxdC) is an effective therapeutic option for recurrent calcium oxalate (CaOx) stone disease. Therefore, we aimed to develop food-grade probiotic L. plantarum secreting OxdC using lactococcal group II intron, Ll.LtrB and evaluate its oxalate degradation ability in vivo. Male Wistar albino rats were divided into four groups...
October 2018: Microbiological Research
https://www.readbyqxmd.com/read/30152444/distal-renal-tubular-acidosis-in-sickle-cell-anemia
#8
Anjali Bharani, Rani Manchanda, Ritesh Kumar Singh, Swati Prashant
We report a rare case of two young male siblings with sickle cell anemia who presented with bilateral lower limb deformities, failure to thrive, polyuria, and polydipsia. On investigations, they were found to have normal anion gap metabolic acidosis, hypokalemia, and nephrocalcinosis were seen on ultrasonography of the kidneys. These reports were suggestive of distal renal tubular acidosis (dRTA). They were started on oral alkali replacement and potassium therapy with which clinical improvement was seen. Conventionally, renal tubular dysfunction is thought to occur infrequently in patients with sickle cell anemia...
July 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/30139463/incomplete-distal-renal-tubular-acidosis-and-kidney-stones
#9
REVIEW
Daniel G Fuster, Orson W Moe
Renal tubular acidosis (RTA) is comprised of a diverse group of congenital or acquired diseases with the common denominator of defective renal acid excretion with protean manifestation, but in adults, recurrent kidney stones and nephrocalcinosis are mainly found in presentation. Calcium phosphate (CaP) stones and nephrocalcinosis are frequently encountered in distal hypokalemic RTA type I. Alkaline urinary pH, hypocitraturia, and, less frequently, hypercalciuria are the tripartite lithogenic factors in distal RTA (dRTA) predisposing to CaP stone formation; the latter 2 are also commonly encountered in other causes of urolithiasis...
July 2018: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/30139460/renal-tubular-acidosis-h-base-and-ammonia-transport-abnormalities-and-clinical-syndromes
#10
REVIEW
Ira Kurtz
Renal tubular acidosis (RTA) represents a group of diseases characterized by (1) a normal anion gap metabolic acidosis; (2) abnormalities in renal HCO3 - absorption or new renal HCO3 - generation; (3) changes in renal NH4 + , Ca2+ , K+ , and H2 O homeostasis; and (4) extrarenal manifestations that provide etiologic diagnostic clues. The focus of this review is to give a general overview of the pathogenesis of the various clinical syndromes causing RTA with a particular emphasis on type I (hypokalemic distal RTA) and type II (proximal) RTA while reviewing their pathogenesis from a physiological "bottom-up" approach...
July 2018: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/30139458/hypokalemic-distal-renal-tubular-acidosis
#11
REVIEW
Patricia G Vallés, Daniel Batlle
Distal renal tubular acidosis (DRTA) is defined as hyperchloremic, non-anion gap metabolic acidosis with impaired urinary acid excretion in the presence of a normal or moderately reduced glomerular filtration rate. Failure in urinary acid excretion results from reduced H+ secretion by intercalated cells in the distal nephron. This results in decreased excretion of NH4 + and other acids collectively referred as titratable acids while urine pH is typically above 5.5 in the face of systemic acidosis. The clinical phenotype in patients with DRTA is characterized by stunted growth with bone abnormalities in children as well as nephrocalcinosis and nephrolithiasis that develop as the consequence of hypercalciuria, hypocitraturia, and relatively alkaline urine...
July 2018: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/30135278/-genetic-and-biochemical-features-of-the-monogenic-hereditary-urolithiasis
#12
REVIEW
D S Mikhaylenko, M Y Prosyannikov, A Baranova, M V Nemtsova
Urolithiasis is a common urological problem. In most cases, this multifactorial pathology develops due to the combination of inherited low-penetrance gene variants and environment factors such as urinary tract infections and unbalanced diet. However, some cases are monogenic. These hereditary forms of urolithiasis manifest in childhood, and are characterized by multiple, bilateral and recurrent kidney stones and progress to chronic renal failure relatively early. Due to widening acceptance of exome and gene panel sequencing, substantially larger percentages of urolithiasis cases are now attributed to hereditary causes, up to 20% among patients of 18 years old or younger...
August 2018: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/30134288/intellectual-disability-and-psychotropic-medications
#13
Lisa Herzig, Nina de Lacy, George Capone, Jenny Radesky
Andrew is a 17-year-old male with trisomy 21, commonly known as Down syndrome, and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of a complete atrioventricular canal that was repaired as an infant and poorly controlled infantile spasms. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia...
September 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/30109410/hereditary-hypophosphatemic-rickets-with-hypercalciuria-pathophysiology-clinical-presentation-diagnosis-and-therapy
#14
REVIEW
Clemens Bergwitz, Ken-Ichi Miyamoto
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an estimated prevalence of 1:250,000 that was originally described by Tieder et al. Individuals with HHRH carry compound-heterozygous or homozygous (comp/hom) loss-of-function mutations in the sodium-phosphate co-transporter NPT2c. These mutations result in the development of urinary phosphate (Pi) wasting and hypophosphatemic rickets, bowing, and short stature, as well as appropriately elevated 1,25(OH)2 D levels, which sets this fibroblast growth factor 23 (FGF23)-independent disorder apart from the more common X-linked hypophosphatemia...
August 14, 2018: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/30102483/a-novel-homozygous-w99g-mutation-in-cldn-16-gene-causing-familial-hypomagnesemic-hypercalciuric-nephrocalcinosis-in-turkish-siblings
#15
Caner Alparslan, Elif Perihan Öncel, Sinem Akbay, Demet Alaygut, Fatma Mutlubaş, Mansur Tatlı, Martin Konrad, Önder Yavaşcan, Belde Kasap-Demir
Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, Konrad M, Yavaşcan Ö, Kasap-Demir B. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turk J Pediatr 2018; 60: 76-80. Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades. Mutations in CLDN-16 and CLDN-19 genes are associated with disrupted magnesium handling in the thick ascending limp of Henle`s loop...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30094023/hyponatremia-in-kidney-transplant-patients-its-pathophysiologic-mechanisms
#16
Carlos G Musso, Alejandrina Castañeda, María Giordani, Cesar Mombelli, Silvia Groppa, Nora Imperiali, Guillermo Rosa Diez
Kidney transplant patients (KTPs), and particularly those with advanced chronic kidney rejection, may be affected by opportunistic infections, metabolic alterations and vascular and oncologic diseases that promote clinical conditions that require a variety of treatments, the combinations of which may predispose them to hyponatremia. Salt and water imbalance can induce abnormalities in volemia and/or serum sodium depending on the nature of this alteration (increase or decrease), its absolute magnitude (mild or severe) and its relative magnitude (body sodium:water ratio)...
August 2018: Clinical Kidney Journal
https://www.readbyqxmd.com/read/30094009/two-brothers-with-identical-variants-of-the-clcn5-gene-one-developing-dent-s-disease
#17
Anne Sophie Fischer, Niels Marcussen, Maria Rasmussen, Else Randers
Dent's disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, haematuria, hypophosphataemia or renal insufficiency. Dent's disease is a hereditary condition that is caused by variants in the CLCN5 gene or the OCRL1 gene and affects only males...
August 2018: Clinical Kidney Journal
https://www.readbyqxmd.com/read/30067419/familial-non-syndromic-macular-pseudocoloboma-secondary-to-homozygous-cldn19-mutation
#18
Arif O Khan, Nisha Patel, Nicola G Ghazi, Shahad S Alzahrani, Stefan T Arold, Fowzan S Alkuraya
PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family. METHODS: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular modeling of the candidate mutation; and review of clinical, imaging, and laboratory findings...
August 1, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30049397/prevalence-of-nephrocalcinosis-in-pseudohypoparathyroidism-is-screening-necessary
#19
David M Maahs
No abstract text is available yet for this article.
August 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/30046000/hnf4a-deletion-in-the-mouse-kidney-phenocopies-fanconi-renotubular-syndrome
#20
Sierra S Marable, Eunah Chung, Mike Adam, S Steven Potter, Joo-Seop Park
Different nephron tubule segments perform distinct physiological functions, collectively acting as a blood filtration unit. Dysfunction of the proximal tubule segment can lead to Fanconi renotubular syndrome (FRTS), with major symptoms such as excess excretion of water, glucose, and phosphate in the urine. It has been shown that a mutation in HNF4A is associated with FRTS in humans and that Hnf4a is expressed specifically in proximal tubules in adult rat nephrons. However, little is known about the role of Hnf4a in nephrogenesis...
July 25, 2018: JCI Insight
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