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Nephrocalcinosis

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https://www.readbyqxmd.com/read/28324001/cyp3a4-induction-by-rifampin-an-alternative-pathway-for-vitamin-d-inactivation-in-patients-with-cyp24a1-mutations
#1
Colin Patrick Hawkes, Dong Li, Hakon Hakonarson, Kevin E Meyers, Kenneth Thummel, Michael A Levine
Context: The P450 enzyme CYP24A1 is the principal inactivator of vitamin D metabolites. Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria, and represent the most common form of idiopathic infantile hypercalcemia (IIH). Current management strategies for this condition include a low calcium diet, reduced dietary vitamin D intake and limited sunlight exposure. CYP3A4 is a P450 enzyme that inactivates many drugs and xenobiotics and may represent an alternative pathway for inactivation of vitamin D metabolites...
March 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28302239/hyperoxaluria-after-renal-transplantation
#2
Waqar Ahmed, Abad Ur Rehman, Sumit Acharya
Primary hyperoxaluria is a rare autosomal recessive disorder, characterised by precipitation of insoluble oxalate crystals in the joints, kidneys, heart, eyes, skin, nerves, and bone marrow. The patients of primary oxaluria usually present with renal stone/nephrocalcinosis, and isolated kidney transplantation should not be done in these patients. We present a case report of 31-year lady with acute graft dysfunction due to oxaluria with no history of nephrolithiasis/nephrocalcinosis prior to renal transplantation...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#3
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28288174/poor-phenotype-genotype-association-in-a-large-series-of-patients-with-type-iii-bartter-syndrome
#4
Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, Gema Ariceta
INTRODUCTION: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS...
2017: PloS One
https://www.readbyqxmd.com/read/28237247/subcutaneous-fat-necrosis-of-the-newborn-report-of-five-cases
#5
Leire González Lara, Asunción Vicente Villa, María Mercedes Otero Rivas, Mariona Sunol Capella, Fredy Prada, María Antonia González Enseñat
Subcutaneous fat necrosis of the newborn (SCFN) is a rare, self-limited disorder of the panniculus which appears in the first few weeks of life. SCFN generally follows an uncomplicated course. However, there are important complications for which the patient must be regularly monitored, including thrombocytopenia, hypoglycemia, hypertriglyceridemia, and most importantly, hypercalcemia. We report five infants with SCFN. All children were born at term. The onset of lesions was between 1 day and 20 days after birth...
February 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28236887/ajkd-atlas-of-renal-pathology-nephrocalcinosis-and-acute-phosphate-nephropathy
#6
Agnes B Fogo, Mark A Lusco, Behzad Najafian, Charles E Alpers
No abstract text is available yet for this article.
March 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28228792/malabsorption-syndrome-as-a-rare-cause-of-nephrocalcinosis
#7
Rui Abreu, Cláudia Bento, Luís Oliveira, Teresa Morgado
Nephrocalcinosis is characterized by calcification of kidney parenchyma and can be caused by an increased amount of calcium, phosphate or oxalate in urinary excretion. We report a 35-year-old female with nephrocalcinosis. She had fitful steatorrhea since last year. Physical examination was normal. Analytic exams found normal renal function and ionogram. Primary hyperparathyroidism, renal tubular acidosis and sarcoidosis were excluded. Urinalysis showed mild hematuria, without proteinuria and 24-hour urine collection exhibited hyperoxaluria...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28218266/crystal-nephropathies-mechanisms-of-crystal-induced-kidney-injury
#8
REVIEW
Shrikant R Mulay, Hans-Joachim Anders
Crystals can trigger a wide range of kidney injuries that can lead to acute kidney injury, chronic kidney disease, renal colic or nephrocalcinosis, depending on the localization and dynamics of crystal deposition. Studies of the biology of crystal handling by the kidney have shown that the formation of different crystals and other microparticles and the associated mechanisms of renal damage share molecular mechanisms, such as stimulation of the NLRP3 inflammasome or direct cytotoxicity through activation of the necroptosis signalling pathway...
February 20, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#9
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28185107/protective-impact-of-resveratrol-in-experimental-rat-model-of-hyperoxaluria
#10
Taylan Oksay, Sedat Yunusoğlu, Mustafa Calapoğlu, I Aydın Candan, İbrahim Onaran, Osman Ergün, Alper Özorak
PURPOSE: Resveratrol (RES) is a polyphenol with antioxidant, anti-inflammatory, and many other physiological effects on tissues. In the present study, the effect of resveratrol in hyperoxaluria driven nephrolithiasis/nephrocalcinosis is investigated. METHODS: Wistar-Albino rats of 250-300 g (male, n = 24) were included in the present study. The rats were randomized into three groups: Group 1 consisted of the controls (n = 8), Group 2 of hyperoxaluria (1% ethylene glycol (EG), n = 8), and Group 3 of the treatment (1% EG + 10 mg/kg of RES, n = 8) group...
February 9, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28176308/fluid-restriction-for-treatment-of-preterm-infants-with-chronic-lung-disease
#11
REVIEW
Keith J Barrington, Etienne Fortin-Pellerin, Thomas Pennaforte
BACKGROUND: Fluid restriction is often recommended as part of the management of infants with early or established bronchopulmonary dysplasia (BPD). OBJECTIVES: To determine whether fluid restriction as part of the therapeutic intervention for early or established BPD improves clinical outcomes. SEARCH METHODS: We used the standard search strategy of Cochrane Neonatal to search the Cochrane Central Register of Controlled Trials (CENTRAL; 2016, Issue 1) in the Cochrane Library (searched 16 February 2016), MEDLINE via PubMed (1966 to 16 February 2016), Embase (1980 to 16 February 2016), and CINAHL (1982 to 16 February 2016)...
February 8, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28161266/clinical-spectrum-of-primary-hyperoxaluria-type%C3%A2-1-experience-of-a-tertiary-center
#12
Neveen A Soliman, Marwa M Nabhan, Safaa M Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M Bazaraa, Ahmed M Badr, Omar A Tolba, Magd A Kotb, Khaled M Eweeda, Alaa Fayez
BACKGROUND AND AIM: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients...
February 1, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#13
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28152538/two-cases-of-mistaken-polyuria-and-nephrocalcinosis-in-infants-with-glucose-galactose-malabsorption-a-possible-role-of-1-25-oh-2d3%C3%A2
#14
Melissa Fiscaletti, Marie-Jeanne Lebel, Nathalie Alos, Geneviève Benoit, Prévost Jantchou
BACKGROUND/AIMS: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. CASE PRESENTATION: The first case consulted for FTT and presented with hypercalcemia and hypercalciuria. His mother had self-medicated with high doses of vitamin D...
February 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28127482/successful-management-of-refractory-type-1-renal-tubular-acidosis-with-amiloride
#15
Patrick Oguejiofor, Robert Chow, Kenneth Yim, Bernard G Jaar
A 28-year-old female with history of hypothyroidism, Sjögren's Syndrome, and Systemic Lupus Erythematosus (SLE) presented with complaints of severe generalized weakness, muscle pain, nausea, vomiting, and anorexia. Physical examination was unremarkable. Laboratory test showed hypokalemia at 1.6 mmol/l, nonanion metabolic acidosis with HCO3 of 11 mmol/l, random urine pH of 7.0, and urine anion gap of 8 mmol/l. CT scan of the abdomen revealed bilateral nephrocalcinosis. A diagnosis of type 1 RTA likely secondary to Sjögren's Syndrome was made...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#16
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Sequeira, Benjamin Fass, Pisit Pitukcheewanont
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28090060/medullary-nephrocalcinosis-in-a-furosemide-abuser
#17
Nobutaka Hirooka, Mai Tahara, Koichi Takebayashi
No abstract text is available yet for this article.
2017: Internal Medicine
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#18
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas-Volkov, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
March 30, 2017: Gene
https://www.readbyqxmd.com/read/28087478/renal-involvement-in-lysinuric-protein-intolerance-contribution-of-pathology-to-assessment-of-heterogeneity-of-renal-lesions
#19
Emmanuel Estève, Pauline Krug, Aurélie Hummel, Jean-Baptiste Arnoux, Olivia Boyer, Anais Brassier, Pascale de Lonlay, Vincent Vuiblet, Stéphanie Gobin, Rémi Salomon, Christine Piètrement, Jean-Paul Bonnefont, Aude Servais, Louise Galmiche
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980's. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported...
January 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#20
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
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