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Collections Nephrocalcinosis/Medullary spo...

Nephrocalcinosis/Medullary sponge kidney

https://read.qxmd.com/read/26161261/successful-treatment-of-neonatal-severe-hyperparathyroidism-with-cinacalcet-in-two-patients
#21
JOURNAL ARTICLE
Marisa M Fisher, Susanne M Cabrera, Erik A Imel
UNLABELLED: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations...
2015: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/19820004/hypophosphatemic-rickets-with-hypercalciuria-due-to-mutation-in-slc34a3-type-iic-sodium-phosphate-cotransporter-presentation-as-hypercalciuria-and-nephrolithiasis
#22
JOURNAL ARTICLE
Amanda L Tencza, Shoji Ichikawa, Anna Dang, David Kenagy, Edward McCarthy, Michael J Econs, Michael A Levine
CONTEXT: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). The typical presentation is severe rickets and hypophosphatemia, and hypercalciuria is often discovered later or overlooked. OBJECTIVE: We sought to determine the genetic basis for severe hypercalciuria and nephrolithiasis/nephrocalcinosis in an adolescent male with elevated serum levels of calcitriol but normal serum levels of calcium and phosphorus...
November 2009: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/20074341/genetic-and-clinical-peculiarities-in-a-new-family-with-hereditary-hypophosphatemic-rickets-with-hypercalciuria-a-case-report
#23
JOURNAL ARTICLE
Natalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, Teresa M Pérez-Menéndez, Fernando Santos
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to stimulate 1,25 dihydroxyvitamin D synthesis which, in turn, results in hypercalciuria. Hereditary hypophosphatemic rickets with hypercalciuria is caused by loss-of-function in the type 2c sodium phosphate cotransporter encoded by the SLC34A3 gene. This report shows a family with a non-previously identified mutation in the SLC34A3 gene and exhibiting mild and different manifestations of HHRH...
January 14, 2010: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/22387237/novel-napi-iic-mutations-causing-hhrh-and-idiopathic-hypercalciuria-in-several-unrelated-families-long-term-follow-up-in-one-kindred
#24
JOURNAL ARTICLE
Y Yu, S R Sanderson, M Reyes, A Sharma, N Dunbar, T Srivastava, H Jüppner, C Bergwitz
Homozygous and compound heterozygous mutations in SLC34A3, the gene encoding the sodium-dependent co-transporter NaPi-IIc, cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate-wasting resulting in hypophosphatemia, elevated 1,25(OH)(2) vitamin D levels, hypercalciuria, rickets/osteomalacia, and frequently kidney stones or nephrocalcinosis. Similar albeit less severe biochemical changes are also observed in heterozygous carriers, which are furthermore indistinguishable from those encountered in idiopathic hypercalciuria (IH)...
May 2012: Bone
https://read.qxmd.com/read/22672866/slc34a3-intronic-deletion-in-a-new-kindred-with-hereditary-hypophosphatemic-rickets-with-hypercalciuria
#25
JOURNAL ARTICLE
Shirin Hasani-Ranjbar, Mahsa M Amoli, Azadeh Ebrahim-Habibi, Ehsan Dehghan, Akbar Soltani, Parvin Amiri, Bagher Larijani
OBJECTIVE: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. In two reports on six affected kindreds with HHRH, the disease was mapped to chromosome 9q34, which contains the SLC34A3 gene that encodes the renal type 2c sodium-phosphate cotransporter. Our objective was to define the clinical course of these cases in a family with HHRH and to screen for SLC34A3 gene in order to determine whether these mutations are responsible for HHRH...
June 2012: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/24176905/intronic-deletions-in-the-slc34a3-gene-a-cautionary-tale-for-mutation-analysis-of-hereditary-hypophosphatemic-rickets-with-hypercalciuria
#26
JOURNAL ARTICLE
Shoji Ichikawa, Shamir Tuchman, Leah R Padgett, Amie K Gray, H Jorge Baluarte, Michael J Econs
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6-1/2-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24-hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH), and elevated 1,25(OH)2D...
February 2014: Bone
https://read.qxmd.com/read/25165185/genetic-diseases-of-renal-phosphate-handling
#27
REVIEW
Carsten A Wagner, Isabel Rubio-Aliaga, Jürg Biber, Nati Hernando
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1), NAPI-IIc (SLC34A3) and PIT-2 (SLC20A2). These transporters are highly regulated by various cellular mechanisms and factors including acid-base status, electrolyte balance and hormones such as dopamine, glucocorticoids, growth factors, vitamin D3, parathyroid hormone and fibroblast growth factor 23 (FGF23)...
September 2014: Nephrology, Dialysis, Transplantation
https://read.qxmd.com/read/26389061/enamel-renal-syndrome-with-associated-amelogenesis-imperfecta-nephrolithiasis-and-hypocitraturia-a-case-report
#28
Dhvani Bhesania, Ankit Arora, Sonali Kapoor
Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth...
September 2015: Imaging Science in Dentistry
https://read.qxmd.com/read/26389017/nephrolithiasis-kidney-failure-and-bone-disorders-in-dent-disease-patients-with-and-without-clcn5-mutations
#29
JOURNAL ARTICLE
Franca Anglani, Angela D'Angelo, Luisa Maria Bertizzolo, Enrica Tosetto, Monica Ceol, Daniela Cremasco, Luciana Bonfante, Maria Antonietta Addis, Dorella Del Prete
Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the inositol polyphosphate 5-phosphatase, and was initially associated with Lowe syndrome. In approximately 25 % of patients, no CLCN5 and OCRL mutations were detected...
2015: SpringerPlus
https://read.qxmd.com/read/26304832/discordant-clinical-course-of-vitamin-d-hydroxylase-cyp24a1-associated-hypercalcemia-in-two-adult-brothers-with-nephrocalcinosis
#30
REVIEW
Tilman Jobst-Schwan, Andrea Pannes, Karl Peter Schlingmann, Kai-Uwe Eckardt, Bodo B Beck, Michael S Wiesener
BACKGROUND/AIMS: Hypercalcemia can result in nephrocalcinosis/nephrolithiasis and may lead to renal failure. Idiopathic infantile hypercalcemia is caused by mutations of the CYP24A1 gene, which regulates vitamin D activity. Classically infants present with hypercalcemia. Recently, a number of individuals have been reported with late onset clinical manifestation or late diagnosis in adulthood. All these patients are believed to show hypercalciuria. METHODS: We report a 24 year old patient of healthy consanguine parents...
2015: Kidney & Blood Pressure Research
https://read.qxmd.com/read/26309449/renal-cysts-and-nephrocalcinosis-in-a-patient-deficient-in-11-beta-hydroxylase-enzyme
#31
JOURNAL ARTICLE
Yashant Aswani, Hemangini Thakkar, Priya Hira
BACKGROUND: Chronic hypokalemia is known to induce renal structural and functional abnormality. The former includes induction of renal cyst formation and interstitial fibrosis while the latter entails urine-concentrating defect. However, these hypokalemia-mediated changes occur in a handful of conditions including primary aldosteronism, distal renal tubular acidosis, Liddle's disease, apparent mineralocorticoid excess syndrome and Bartter's type 3 syndrome. Such a finding has never been described in an 11 beta-hydroxylase deficient individual...
2015: Polish Journal of Radiology
https://read.qxmd.com/read/26251718/hydrochlorothiazide-reduces-urinary-calcium-excretion-in-a-child-with-lowe-syndrome
#32
JOURNAL ARTICLE
Lavjay Butani
There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not always successful. Thiazide diuretics, which reduce urinary calcium excretion, have not been used in these children, due to concerns that (i) they may not work as a result of the underlying tubular abnormalities and (ii) their risk may outweigh the potential benefits they have to offer...
August 2015: Clinical Kidney Journal
https://read.qxmd.com/read/26251717/the-hypercalcaemia-of-cyp24a1-inactivation-new-ways-to-improve-diagnosis-and-treatment
#33
JOURNAL ARTICLE
Adriana S Dusso, Carlos Gomez-Alonso, Jorge B Cannata-Andia
This case report presents fluoconazole efficacy to reduce hypercalcaemia and increased urinary calcium excretion in a patient with nephrocalcinosis after a long history of recurrent renal stones caused by a loss-of-function mutation of the CYP24A1 gene. The CYP24A1 gene codes for a key enzyme in the vitamin D endocrine system that protects against vitamin D toxicity by degrading the circulating excess of both 1,25-dihydroxyvitamin D, the hormonal form of vitamin D, and its precursor, 25-hydroxyvitamin D. In order to expedite the identification of this rare disorder and improve therapies to avoid its progression to nephrocalcinosis, this editorial updates the current knowledge on the frequency of CYP24A1-inactivating mutations, the features of their early clinical presentation and progression, and the pathophysiology of vitamin D activation in health and in granulomatous disorders that may help improve current treatment...
August 2015: Clinical Kidney Journal
https://read.qxmd.com/read/26251716/successful-treatment-of-hypercalcaemia-associated-with-a-cyp24a1-mutation-with-fluconazole
#34
JOURNAL ARTICLE
Judith Sayers, Ann Marie Hynes, Shalabh Srivastava, Frances Dowen, Richard Quinton, Harish K Datta, John A Sayer
Mutations in CYP24A1, encoding the vitamin D 24-hydroxlase enzyme, are known to cause a range of clinical phenotypes and presentations including idiopathic infantile hypercalcaemia and adult-onset nephrocalcinosis and nephrolithiasis. In the context of raised or borderline high serum calcium levels, suppressed PTH and persistently elevated 1,25 dihydroxy vitamin D levels, this rare condition should be considered. We present a case where this biochemical pattern was seen and mutations in CYP24A1 were confirmed...
August 2015: Clinical Kidney Journal
https://read.qxmd.com/read/23293122/1-25-oh-2d-24-hydroxylase-cyp24a1-deficiency-as-a-cause-of-nephrolithiasis
#35
JOURNAL ARTICLE
Galina Nesterova, May Christine Malicdan, Kaori Yasuda, Toshiyuki Sakaki, Thierry Vilboux, Carla Ciccone, Ronald Horst, Yan Huang, Gretchen Golas, Wendy Introne, Marjan Huizing, David Adams, Cornelius F Boerkoel, Michael T Collins, William A Gahl
BACKGROUND AND OBJECTIVES: Elevated serum vitamin D with hypercalciuria can result in nephrocalcinosis and nephrolithiasis. This study evaluated the cause of excess 1,25-dihydroxycholecalciferol (1α,25(OH)2D3) in the development of those disorders in two individuals. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Two patients with elevated vitamin D levels and nephrocalcinosis or nephrolithiasis were investigated at the National Institutes of Health (NIH) Clinical Center and the NIH Undiagnosed Diseases Program, by measuring calcium, phosphate, and vitamin D metabolites, and by performing CYP24A1 mutation analysis...
April 2013: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/23470222/loss-of-function-mutations-of-cyp24a1-the-vitamin-d-24-hydroxylase-gene-cause-long-standing-hypercalciuric-nephrolithiasis-and-nephrocalcinosis
#36
JOURNAL ARTICLE
Dganit Dinour, Pazit Beckerman, Liat Ganon, Karen Tordjman, Zemach Eisenstein, Eli J Holtzman
PURPOSE: Hypercalciuria is the most common cause of kidney stone disease and genetic factors have an important role in nearly half of these cases. Recently loss-of-function mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in idiopathic infantile hypercalcemia. We describe the clinical and molecular basis of severe long-standing kidney stone disease in adults caused by CYP24A1 mutations. MATERIALS AND METHODS: Three subjects from 2 Israeli families with nephrolithiasis and nephrocalcinosis were clinically characterized...
August 2013: Journal of Urology
https://read.qxmd.com/read/23680648/medullary-sponge-kidney
#37
REVIEW
Giovanni Gambaro, Francesco M Danza, Antonia Fabris
PURPOSE OF REVIEW: After it was first described in 1939, medullary sponge kidney (MSK) received relatively little attention. This was because it was believed to have a low prevalence and because it was considered a benign condition. Studies in recent years have been changing these convictions however, hence the present review. RECENT FINDINGS: Insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the 'ureteric bud-metanephric mesenchyme' interface...
July 2013: Current Opinion in Nephrology and Hypertension
https://read.qxmd.com/read/24175086/medullary-nephrocalcinosis-in-an-adult-patient-with-idiopathic-infantile-hypercalcaemia-and-a-novel-cyp24a1-mutation
#38
JOURNAL ARTICLE
Edgar Meusburger, Axel Mündlein, Emanuel Zitt, Barbara Obermayer-Pietsch, Dieter Kotzot, Karl Lhotta
Idiopathic infantile hypercalcaemia (IIH) is an autosomal recessively inherited disease, presented in the first year of life with hypercalcaemia, precipitated by normal amounts of vitamin D supplementation. Recently loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-metabolizing enzyme 24-hydroxylase, have been found in these patients. We describe a young man homozygous for a novel missense mutation (c.628T>C) of the CYP24A1 gene. He had suffered from severe hypercalcaemia in early childhood...
April 2013: Clinical Kidney Journal
https://read.qxmd.com/read/24235083/chronic-hypercalcaemia-from-inactivating-mutations-of-vitamin-d-24-hydroxylase-cyp24a1-implications-for-mineral-metabolism-changes-in-chronic-renal-failure
#39
JOURNAL ARTICLE
Giacomo Colussi, Liat Ganon, Silvana Penco, Maria Elisabetta De Ferrari, Federica Ravera, Marialuisa Querques, Paola Primignani, Eli J Holtzman, Dganit Dinour
BACKGROUND: Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still to be defined. METHODS: We describe two adult patients with homozygous mutations and six related heterozygous carriers. Mineral and hormonal data in these patients were compared with that in 27 patients with stage 2-3 chronic kidney disease and 39 healthy adult kidney donors...
March 2014: Nephrology, Dialysis, Transplantation
https://read.qxmd.com/read/24250268/human-slc26a1-gene-variants-a-pilot-study
#40
JOURNAL ARTICLE
Paul A Dawson, Pearl Sim, David W Mudge, David Cowley
Kidney stones are a global health problem, incurring massive health costs annually. Why stones recur in many patients remains unknown but likely involves environmental, physiological, and genetic factors. The solute linked carrier (SLC) 26A1 gene has previously been linked to kidney stones in mice. SLC26A1 encodes the sulfate anion transporter 1 (SAT1) protein, and its loss in mice leads to hyperoxaluria and calcium oxalate renal stones. To investigate the possible involvement of SAT1 in human urolithiasis, we screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis, which is the commonest type...
2013: TheScientificWorldJournal
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