keyword
https://read.qxmd.com/read/33564447/calciprotein-particles-and-fibroblast-growth-factor-23-contribute-to-the-pathophysiology-of-hypercalcemia-in-a-patient-with-renal-sarcoidosis
#21
Yoshitaka Iwazu, Makoto Kuro-O, Yutaka Miura, Shin-Ichi Takeda, Toshiyuki Yamada, Daisuke Nagata
In patients with sarcoidosis, dysregulated calcium metabolism is one of the frequently observed complications. However, little attention has been paid to abnormal phosphate metabolism. Herein we present the case of a 42-year-old Japanese man with renal sarcoidosis who developed acute kidney injury due to hypercalcemia and nephrolithiasis. Laboratory data showed hypercalcemia with a normal serum phosphate level and high serum 1,25-hydroxyvitamin D3 , fibroblast growth factor 23 (FGF23) and calciprotein particle (CPP) levels...
January 2021: Clinical Kidney Journal
https://read.qxmd.com/read/33546058/hypertension-in-a-patient-with-medullary-sponge-kidney-a-case-report
#22
Fengyuan Wu, Ying Zhang, Yunpeng Cheng, Yan Lu, Yinong Jiang, Wei Song
RATIONALE: Medullary sponge kidney (MSK) is a congenital renal disorder characterized by recurrent nephrolithiasis or nephrocalcinosis. Recently, it has been found that MSK can be also combined with other diseases, such as primary aldosteronism and Beckwith-Wiedemann, but whether it is associated with secondary hypertension remains unknown. PATIENT CONCERNS: A 22-year-old hypertensive female presented to our hospital characterized by hypokalemia and hypertension...
January 22, 2021: Medicine (Baltimore)
https://read.qxmd.com/read/33543760/clinical-characterization-of-primary-hyperoxaluria-type-3-in-comparison-to-types-1-and-2-a-retrospective-cohort-study
#23
Prince Singh, Jason K Viehman, Ramila A Mehta, Andrea G Cogal, Linda Hasadsri, Devin Oglesbee, Julie B Olson, Barbara M Seide, David J Sas, Peter C Harris, John C Lieske, Dawn S Milliner
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is caused by mutations in the HOGA1 gene. PH3 patients often present with recurrent urinary stone disease (USD) in first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. The current study characterized clinical manifestations of PH3 across the decades of life in comparison to PH1 and PH2. METHODS: Clinical information was obtained from the Rare Kidney Stone Consortium Primary Hyperoxaluria Registry (PH1 n = 384; PH2 n = 51; PH3 n = 62)...
February 5, 2021: Nephrology, Dialysis, Transplantation
https://read.qxmd.com/read/33542779/pamidronate-as-first-line-treatment-of-hypercalcemia-in-neonatal-subcutaneous-fat-necrosis-a-case-series
#24
Alexander D Chesover, Jennifer Harrington, Farid H Mahmud
Background: Subcutaneous fat necrosis (SCFN) can be complicated by severe hypercalcemia, which is frequently asymptomatic. Nephrocalcinosis is associated with hypercalcemia and, in other clinical settings, has been linked to furosemide and glucocorticoid use. First-line bisphosphonate therapy treating hypercalcemia in neonatal SCFN is not well described. Objectives: To describe the biochemical changes and risk of nephrocalcinosis in infants with hypercalcemia, secondary to neonatal SCFN, treated with initial pamidronate...
February 2021: Paediatrics & Child Health
https://read.qxmd.com/read/33528636/an-uncommon-cause-of-nephrocalcinosis-in-an-infant-questions
#25
Adem Yasin Köksoy, Derya Bako, Servet Yel
No abstract text is available yet for this article.
February 2, 2021: Pediatric Nephrology
https://read.qxmd.com/read/33528635/an-uncommon-cause-of-nephrocalcinosis-in-an-infant-answers
#26
Adem Yasin Köksoy, Derya Bako, Servet Yel
No abstract text is available yet for this article.
February 2, 2021: Pediatric Nephrology
https://read.qxmd.com/read/33492307/the-collapsing-variant-of-focal-segmental-glomerulosclerosis-fsgs-secondary-to-sarcoidosis-a-very-rare-case
#27
Mahmut Gok, Omer Ayten, Ozkan Onur, Hakki Cetinkaya, Gulistan Gumrukcu, Gulizar Sahin
Sarcoidosis is a multisystemic granulomatous disease of unknown etiology. Renal involvement in sarcoidosis patients is occurred, but the incidence and prevalence is uncertain. The most common renal involvement of systemic sarcoidosis is nephrocalcinosis and interstitial nephritis. After sarcoidosis was diagnosed in a 31-year-old male patient, we performed a renal biopsy because of nephrotic range proteinuria and renal dysfunction. The collapsing variant of focal segmental glomerulosclerosis (FSGS) secondary to sarcoidosis was diagnosed by kidney biopsy...
January 2021: Iranian Journal of Kidney Diseases
https://read.qxmd.com/read/33483193/vitamin-d-intoxication-due-to-misuse-5-year-experience
#28
A Çağlar, H Tuğçe Çağlar
INTRODUCTION: Vitamin D intoxication (VDI) is a well-known cause of hypercalcemia in children and leads to serious kidney, heart, and neurological problems. In the treatment of VDI, the goal is to correct hypercalcemia. Our aim was to evaluate the clinical features of patients with VDI, identify the causes of VDI in our region, and help guide precautions and treatment of VDI. MATERIALS AND METHODS: The medical records of patients with VDI presenting between January 2015 and December 2019 were retrospectively analyzed...
January 19, 2021: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/33469037/-18-f-sodium-fluoride-autoradiography-imaging-of-nephrocalcinosis-in-donor-kidneys-and-explanted-kidney-allografts
#29
Stan Benjamens, Ines F Antunes, Jan-Luuk Hillebrands, Melanie Reijrink, Marian L C Bulthuis, Stefan P Berger, Cyril Moers, Martin H de Borst, Riemer H J A Slart, Robert A Pol
Nephrocalcinosis is present in up to 43% of kidney allograft biopsies at one-year after transplantation and is associated with inferior graft function and poor graft survival. We studied [18 F]-sodium fluoride ([18 F]-NaF) imaging of microcalcifications in donor kidneys (n = 7) and explanted kidney allografts (n = 13). Three µm paraffin-embedded serial sections were used for histological evaluation of calcification (Alizarin Red; Von Kossa staining) and ex-vivo [18 F]-NaF autoradiography. The images were fused to evaluate if microcalcification areas corresponded with [18 F]-NaF uptake areas...
January 19, 2021: Scientific Reports
https://read.qxmd.com/read/33465815/response-of-the-enpp1-deficient-skeletal-phenotype-to-oral-phosphate-supplementation-and-or-enzyme-replacement-therapy-comparative-studies-in-humans-and-mice
#30
Carlos R Ferreira, Dillon Kavanagh, Ralf Oheim, Kristin Zimmerman, Julian Stürznickel, Xiaofeng Li, Paul Stabach, R Luke Rettig, Logan Calderone, Colin MacKichan, Aaron Wang, Hunter A Hutchinson, Tracy Nelson, Steven M Tommassini, Simon von Kroge, Imke A K Fiedler, Ethan R Lester, Gilbert W Moeckel, Björn Busse, Thorsten Schinke, Thomas O Carpenter, Michael A Levine, Mark C Horwowitz, Demetrios T Braddock
Inactivating mutations in human ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) may result in early-onset osteoporosis (EOOP) in haploinsufficiency and Autosomal Recessive Hypophosphatemic Rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the rachitic phenotype, but elevating plasma phosphorus concentrations in ARHR2 patients may increase the risk of ectopic calcification without increasing bone mass. To assess the risks and efficacy of conventional ARHR2 therapy we performed comprehensive evaluations of ARHR2 patients at two academic medical centers and compared their skeletal and renal phenotypes with ENPP1-deficient Enpp1asj/asj mice on an acceleration diet containing high phosphate treated with recombinant murine Enpp1-Fc...
January 19, 2021: Journal of Bone and Mineral Research
https://read.qxmd.com/read/33464414/an-overview-of-the-current-management-of-short-bowel-syndrome-in-pediatric-patients
#31
REVIEW
Mitsuru Muto, Tatsuru Kaji, Shun Onishi, Keisuke Yano, Waka Yamada, Satoshi Ieiri
Short-bowel syndrome (SBS) is defined as a state of malabsorption after resection or loss of a major portion of the bowel due to congenital or acquired factors. This article presents an overview on the recent management of pediatric SBS. The pediatric SBS population is very heterogeneous. The incidence of SBS is estimated to be 24.5 per 100,000 live births. The nutritional, medical, and surgical therapies available require a comprehensive evaluation. Thus, multidisciplinary intestinal rehabilitation programs (IRPs) are necessary for the management of these complex patients...
January 19, 2021: Surgery Today
https://read.qxmd.com/read/33461896/-nephrocalcinosis-in-children
#32
Catherine Monet-Didailler, Jean-François Chateil, Lise Allard, Astrid Godron-Dubrasquet, Jérôme Harambat
Nephrocalcinosis is defined by calcium phosphate or calcium oxalate deposits in the kidney parenchyma, particularly in tubular epithelial cells and interstitial tissue. It should be differentiated from urolithiasis where calcium salts deposits are located in the kidney and urinary tract. The epidemiology of nephrocalcinosis in children is unknown but the condition is not so rare, with an increased incidence in preterm infants. Often detected as an incidental finding, nephrocalcinosis may be classified according to the radiological type: medullary, cortical or diffuse...
February 2021: Néphrologie & Thérapeutique
https://read.qxmd.com/read/33459628/renal-tubular-acidosis-rta-and-kidney-stones-diagnosis-and-management
#33
Giulia Magni, Robert J Unwin, Shabbir H Moochhala
Renal tubular acidosis (RTA) is a set of raredis orders in which the renal tubule is unable to excreteacid normally and there by maintain normal acid-basebalance, resulting in a complete or incomplete metabolicacidosis. In distal RTA (dRTA, also known as classicalor type 1 RTA), there is a defect in excreting H+ ionsalong the distal nephron (distal tubule and collectingduct), leading to an alkaline urinary pH with calcium phosphate precipitation and stones. Causes of dRTAinclude genetic mutations, autoimmune disease, and some drugs...
January 2021: Archivos Españoles de Urología
https://read.qxmd.com/read/33456552/re-evaluation-of-polydextrose-e-1200-as-a-food-additive
#34
Maged Younes, Gabriele Aquilina, Laurence Castle, Karl-Heinz Engel, Paul Fowler, Peter Fürst, Rainer Gürtler, Ursula Gundert-Remy, Trine Husøy, Melania Manco, Wim Mennes, Peter Moldeus, Sabina Passamonti, Romina Shah, Dina Hendrika Waalkens-Berendsen, Detlef Wölfle, Matthew Wright, Polly Boon, Riccardo Crebelli, Alessandro Di Domenico, Metka Filipič, Alicja Mortensen, Ruud Woutersen, Henk Van Loveren, Alessandra Giarola, Federica Lodi, Ana Maria Rincon, Alexandra Tard, Maria Jose Frutos Fernandez
This opinion deals with the re-evaluation of polydextrose (E 1200) when used as a food additive. The Panel followed the conceptual framework for the risk assessment of certain additives and considered that: adequate exposure estimates were available; the margin of safety (MOS)/margin of exposure (MOE) for arsenic was between 0.5-14 and 8.5 for lead; the exhaustions of the tolerable weekly intake (TWI) for cadmium would be 165%, 10% for mercury, whereas the exhaustion of the tolerable daily intake (TDI) for nickel would be 9%; the absorption is limited and part of polydextrose is fermented in the large intestine into short-chain fatty acids (SCFA); adequate toxicity data were available; there is no concern with respect to genotoxicity; no adverse effects were reported in subchronic studies in rats, dogs or monkeys nor in chronic or carcinogenicity studies in mice and rats at the highest doses tested of up 12,500 mg/kg body weight (bw) per day and 15,000 mg/kg bw per day, respectively; the nephrocalcinosis in dogs given high doses of polydextrose was considered to be a treatment-related but a secondary effect related to diarrhoea, and hence not relevant for the risk assessment; no adverse effects were reported in reproductive or developmental toxicity studies in rats administered up to 10,000 mg polydextrose/kg bw per day, or in a developmental toxicity study in rabbits up to 1,818 mg/kg bw per day (the highest dose tested)...
January 2021: EFSA journal
https://read.qxmd.com/read/33386195/hereditary-distal-renal-tubular-acidosis-genotypic-correlation-evolution-to-long-term-and-new-therapeutic-perspectives
#35
REVIEW
Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting duct level. It is characterised by persistent hyperchloremic metabolic acidosis, with a normal anion gap in plasma, in the presence of high urinary pH and low urinary excretion of ammonium. To date, 5 genes whose mutations give rise to primary DRTA have been described. Alterations in the ATP6V1B1 and ATP6V0A4 genes are inherited recessively and are associated with forms of early onset and, in many cases, with neurosensorial deafness...
December 29, 2020: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://read.qxmd.com/read/33377691/-a-complicated-case-of-calcium-urolithiasis-in-a-carrier-of-slc7a9-gene-mutation-responsible-for-cystinuria
#36
M M Litvinova, T V Filippova, K F Khafizov, D V Svetlichnaya, D A Ahmedzyanova, V I Rudenko, Z K Gadzhieva, M V Shumikhina
The article describes a clinical case of kidney stone disease (KSD) in a child of 4 y.o. with calcium urolithiasis. Analysis of chemical content of the kidney stones revealed their calcium-oxalate composition. According to the results of clinical exome sequencing the patient found to be a heterozygous carrier of a pathogenic variant c.695A>G (p.Tyr232Cys) in the gene SLC7A9, attributable for an autosomal recessive form of cystinuria type B. Because of the uroliths calcium composition the patient was also genotyped for SNPs in 15 genes involved in calcium metabolism...
December 2020: Urologii︠a︡
https://read.qxmd.com/read/33365210/hereditary-tyrosinemia-compounded-with-hyperinsulinemic-hypoglycemia-challenging-diagnosis-of-a-rare-case
#37
Sharmeen Nasir, Mohammad Raza, Samrah I Siddiqui, Ayesha Saleem, Awais Abbas
Hereditary tyrosinemia type 1 (HT-1) is a rare autosomal recessive disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH), which catalyzes the final step in the tyrosine degradation pathway. Hereditary tyrosinemia is a heterogeneous disease with a wide spectrum of clinical manifestations involving hepatic, renal, or nervous systems. It has grave consequences if left untreated. Some of the late complications of hereditary tyrosinemia include cirrhosis, liver nodules, hepatocellular carcinoma, hypophosphatemic rickets, nephrocalcinosis, glomerulosclerosis, and chronic renal failure...
November 18, 2020: Curēus
https://read.qxmd.com/read/33359892/recombinant-human-parathyroid-hormone-1-84-replacement-therapy-in-a-child-with-hypoparathyroidism
#38
Elisabeth Laurer, Johanna Grünberger, Uvistra Naidoo, Roland Lanzersdorfer, Marlene Wimleitner, Katharina Tischlinger, Wolfgang Högler
First line conventional therapy of hypoparathyroidism comprises oral calcium and active vitamin D analogues. This approach may fail to correct hypocalcemia and hyperphosphatemia caused by the absence of parathyroid hormone and carries the risk of long-term complications including ectopic calcifications and renal damage. Full-length recombinant human parathyroid hormone (rhPTH[1-84]) is approved for the treatment of hypoparathyroidism in adults refractory to conventional therapy. To date, there is no data in children...
December 23, 2020: Bone
https://read.qxmd.com/read/33288743/cytosolic-sequestration-of-the-vitamin-d-receptor-as-a-therapeutic-option-for-vitamin-d-induced-hypercalcemia
#39
Daniela Rovito, Anna Y Belorusova, Sandra Chalhoub, Anna-Isavella Rerra, Elvire Guiot, Arnaud Molin, Agnès Linglart, Natacha Rochel, Gilles Laverny, Daniel Metzger
The bioactive vitamin D3 , 1α,25(OH)2 D3 , plays a central role in calcium homeostasis by controlling the activity of the vitamin D receptor (VDR) in various tissues. Hypercalcemia secondary to high circulating levels of vitamin D3 leads to hypercalciuria, nephrocalcinosis and renal dysfunctions. Current therapeutic strategies aim at limiting calcium intake, absorption and resorption, or 1α,25(OH)2 D3 synthesis, but are poorly efficient. In this study, we identify WBP4 as a new VDR interactant, and demonstrate that it controls VDR subcellular localization...
December 7, 2020: Nature Communications
https://read.qxmd.com/read/33269571/evaluation-of-management-of-patients-with-postoperative-permanent-hypoparathyroidism-how-close-are-we-to-the-targets
#40
Cagatay E Onder, Serife M Kuskonmaz, Gonul Koc, Sevde N Firat, Tulay Omma, Cavit Culha
BACKGROUND: Postoperative hypoparathyroidism (PO-HypoPT) is a complication usually seen after thyroid surgery. PO-HypoPT, which lasts longer than 6 months is defined permanently. The aim of this study is to evaluate how close permanent POHypoPT patients can approach target values. MATERIALS AND METHODS: 107 patients who were followed up with permanent diagnosis of PO-HypoPT between 2016-2020 were included in the study. The study protocol includes serum albumin corrected total calcium (Alb-sCa), phosphate (P), Ca-P product, and 24 h urine calcium measurements...
December 3, 2020: Minerva Endocrinologica
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