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"Proximal renal tubular acidosis"

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https://www.readbyqxmd.com/read/27866471/distal-renal-tubular-acidosis-without-renal-impairment-after-use-of-tenofovir-a-case-report
#1
Kentaro Iwata, Manabu Nagata, Shuhei Watanabe, Shinichi Nishi
BACKGROUND: Tenofovir, one of antiretroviral medication to treat human immunodeficiency virus (HIV) infection, is known to cause proximal renal tubular acidosis such as Fanconi syndrome, but cases of distal renal tubular acidosis had never been reported. CASE PRESENTATION: A 20-year-old man with HIV infection developed nausea and vomiting without diarrhea after starting antiretroviral therapy. Arterial blood gas revealed non-anion-gap metabolic acidosis and urine test showed positive urine anion gap...
November 21, 2016: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27540713/autosomal-dominant-osteopetrosis-associated-with-renal-tubular-acidosis-is-due-to-a-clcn7-mutation
#2
Sian E Piret, Caroline M Gorvin, Anne Trinh, John Taylor, Stefano Lise, Jenny C Taylor, Peter R Ebeling, Rajesh V Thakker
The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequencing of one affected and one unaffected family member, followed by targeted analysis of known candidate genes to identify the causative mutation. This identified a missense mutation (c.643G>A; p.Gly215Arg) in the gene encoding the chloride/proton antiporter 7 (gene CLCN7, protein CLC-7), which was confirmed by amplification refractory mutation system (ARMS)-PCR, and to be present in the three available patients...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27424705/successful-treatment-of-proximal-renal-tubular-acidosis-and-fanconi-syndrome-with-vitamin-d-replacement
#3
Syed Ahsan Ali, Muhammad Tariq
Proximal renal tubular acidosis (RTA), also known as Type II RTA, is characterized by a defect in the ability to reabsorb bicarbonate (HCO 3 ) in the proximal tubule. It is usually associated with generalized dysfunction of the proximal tubule as part of Fanconi syndrome. Very few case reports in the literature support Vitamin D deficiency as a cause of proximal RTA. We present a case of a young female who presented with proximal RTA and Fanconi syndrome and excellently responded to Vitamin D replacement. Thus, work-up for the etiology of proximal RTA should include Vitamin D levels since replacement of this vitamin in those who are deficient can lead to cure of such patients...
July 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27338124/a-novel-mutant-na-hco3-cotransporter-nbce1-in-a-case-of-compound-heterozygous-inheritance-of-proximal-renal-tubular-acidosis
#4
Evan J Myers, Lu Yuan, Melanie A Felmlee, Yuan-Yuan Lin, Yan Jiang, Yu Pei, Ou Wang, Mei Li, Xiao-Ping Xing, Aniko Marshall, Wei-Bo Xia, Mark D Parker
KEY POINTS: The inheritance of two defective alleles of SLC4A4, the gene that encodes the widely-expressed electrogenic sodium bicarbonate cotransporter NBCe1, results in the bicarbonate-wasting disease proximal renal tubular acidosis (pRTA). In the present study, we report the first case of compound-heterozygous inheritance of pRTA (p.Arg510His/p.Gln913Arg) in an individual with low blood pH, blindness and neurological signs that resemble transient ischaemic attacks. We employ fluorescence microscopy on non-polarized (human embryonic kidney) and polarized (Madin-Darby canine kidney) renal cell lines and electrophysiology on Xenopus oocytes to characterize the mutant transporters (R510H and Q913R)...
November 1, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27269891/cystinosis-in-eastern-turkey
#5
Murat Doğan, Keziban Bulan, Sultan Kaba, Yaşar Cesur, Serdar Ceylaner, Lokman Ustyol
BACKGROUND: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. METHODS: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. RESULTS: Eleven patients (age range: 1...
August 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/26823359/sodium-valproate-induced-fanconi-type-proximal-renal-tubular-acidosis
#6
Mark Knights, Tina Thekkekkara, Alistair Morris, Eric Finlay
We present a case series of three patients with sodium valproate-induced Fanconi's syndrome, with ages ranging from 5 years to 12 years. The most important diagnostic features of this syndrome include hypophosphataemia, glycosuria and proteinuria, which are also noted in our series. Furthermore, also added is that clinical fractures representing an underlying osteopaenia may provide an opportunity for early intervention as it raises the suspicion of Fanconi's syndrome. Previous case reports suggest there is a subpopulation of individuals who are at risk of developing this condition...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26554665/a-case-of-severe-osteomalacia-caused-by-tubulointerstitial-nephritis-with-fanconi-syndrome-in-asymptomotic-primary-biliary-cirrhosis
#7
Shintaro Yamaguchi, Tatsuya Maruyama, Shu Wakino, Hirobumi Tokuyama, Akinori Hashiguchi, Shinichiro Tada, Koichiro Homma, Toshiaki Monkawa, James Thomas, Kazutoshi Miyashita, Isao Kurihara, Tadashi Yoshida, Konosuke Konishi, Koichi Hayashi, Matsuhiko Hayashi, Hiroshi Itoh
BACKGROUND: Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC. CASE PRESENTATION: We report the case of a 49-year-old Japanese woman who complained of multiple fractures...
2015: BMC Nephrology
https://www.readbyqxmd.com/read/26016559/transfusion-dependent-thalassaemic-patients-with-renal-fanconi-syndrome-due-to-deferasirox-use
#8
Gwo-Tsann Chuang, I-Jung Tsai, Yong-Kwei Tsau, Meng-Yao Lu
AIM: Deferasirox is a new oral iron chelating agent with several cases reporting renal adverse events in recent years. Our aim was to identify the incidence of deferasirox-related Fanconi syndrome (FS) and its risk factors. METHODS: All transfusion-dependent thalassaemic patients who received deferasirox at the outpatient department of the National Taiwan University Hospital (NTUH) from January 2006 to February 2014 were evaluated. RESULTS: This cohort study included 57 patients, and mean age of deferasirox initiation was 18...
December 2015: Nephrology
https://www.readbyqxmd.com/read/25894566/nephrotic-syndrome-and-thrombotic-microangiopathy-caused-by-cobalamin-c-deficiency
#9
Jens C Koenig, Frank Rutsch, Clemens Bockmeyer, Matthias Baumgartner, Bodo B Beck, Brigitta Kranz, Martin Konrad
BACKGROUND: Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the MMACHC gene. Renal manifestations include thrombotic microangiopathy (TMA), acute or chronic renal failure, tubulointerstitial nephritis, and proximal renal tubular acidosis. However, reports about glomerular pathologies are scarce. CASE REPORT: A 4-year-old boy presented with nephrotic syndrome, arterial hypertension, and chronic anemia but no signs of hemolysis...
July 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/25716530/therapeutic-effect-of-prenatal-alkalization-and-ptc124-in-na-hco3-cotransporter-1-p-w516-knock-in-mice
#10
Y-W Fang, S-S Yang, T Chau, M Nakamura, O Yamazaki, G Seki, H Yamada, H-M Hsu, C-J Cheng, S-H Lin
We created Na(+)/HCO3(-) cotransporter 1 (NBCe1) p.W516* knock-in mice as a model of isolated proximal renal tubular acidosis showing early lethality associated with severe metabolic acidosis to investigate the therapeutic effects of prenatal alkalization or posttranscriptional control 124 (PTC124). NBCe1(W516*/W516*) mice were treated with non-alkalization (control, n=12), prenatal alkalization postcoitus (prenatal group, n=7) and postnatal alkalization from postnatal day 6 (postnatal group, n=12). Mutation-specific therapy, PTC124 (60 mg kg(-1)) or gentamicin (30 mg kg(-1)), was administered intraperitoneally from postnatal day 6...
May 2015: Gene Therapy
https://www.readbyqxmd.com/read/25370778/drug-induced-acid-base-disorders
#11
REVIEW
Daniel Kitterer, Matthias Schwab, M Dominik Alscher, Niko Braun, Joerg Latus
The incidence of acid-base disorders (ABDs) is high, especially in hospitalized patients. ABDs are often indicators for severe systemic disorders. In everyday clinical practice, analysis of ABDs must be performed in a standardized manner. Highly sensitive diagnostic tools to distinguish the various ABDs include the anion gap and the serum osmolar gap. Drug-induced ABDs can be classified into five different categories in terms of their pathophysiology: (1) metabolic acidosis caused by acid overload, which may occur through accumulation of acids by endogenous (e...
September 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/25171149/renal-tubular-acidosis-in-sj%C3%A3-gren-s-syndrome-a-case-series
#12
Rapur Ram, Gudithi Swarnalatha, Kaligotla Venkata Dakshinamurty
BACKGROUND: The exact frequency of distal and proximal renal tubular acidosis (RTA) in Sjögren's syndrome is unknown. Other features of Sjögren's syndrome like polyuria, glomerular manifestations, familial occurrence and pregnancy are not widely reported. The aim was to prospectively study the clinical features and outcome of distal and proximal RTA in Sjögren's syndrome and also report on other renal manifestations of Sjögren's syndrome. METHODS: The present study is a prospective consecutive case series of patients who presented with a history suggestive of RTA and Sjögren's syndrome...
2014: American Journal of Nephrology
https://www.readbyqxmd.com/read/25108849/an-uncommon-presentation-of-sj%C3%A3-gren-s-syndrome-and-brucellosis
#13
Gulperi Celik, Ercument Ozturk, Suleyman Hilmi Ipekci, Sema Yilmaz, Fatih Colkesen, Suleyman Baldane, Levent Kebapcilar
We describe herein a case of hypokalemia due to proximal renal tubular acidosis (RTA) and Fanconi's syndrome (FS) and nephrogenic diabetes insipidus with DIC - a rare complication of Sjögren's syndrome (SS) and brucellosis. The interesting feature of this case was the presentation with severe hypokalemia, causing acute flaccid quadriparesis with cardiac arrest which is extremely rare. The patient was a 48-year-old woman who suffered cardiopulmonary arrest an hour after hospitalization. Analysis of a blood sample obtained before her cardiopulmonary arrest yielded surprising results: laboratory investigations showed profound hypokalemia (1...
August 2014: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/24982885/roles-of-renal-proximal-tubule-transport-in-acid-base-balance-and-blood-pressure-regulation
#14
REVIEW
Motonobu Nakamura, Ayumi Shirai, Osamu Yamazaki, Nobuhiko Satoh, Masashi Suzuki, Shoko Horita, Hideomi Yamada, George Seki
Sodium-coupled bicarbonate absorption from renal proximal tubules (PTs) plays a pivotal role in the maintenance of systemic acid/base balance. Indeed, mutations in the Na(+)-HCO3 (-) cotransporter NBCe1, which mediates a majority of bicarbonate exit from PTs, cause severe proximal renal tubular acidosis associated with ocular and other extrarenal abnormalities. Sodium transport in PTs also plays an important role in the regulation of blood pressure. For example, PT transport stimulation by insulin may be involved in the pathogenesis of hypertension associated with insulin resistance...
2014: BioMed Research International
https://www.readbyqxmd.com/read/24828138/prevention-of-the-disrupted-enamel-phenotype-in-slc4a4-null-mice-using-explant-organ-culture-maintained-in-a-living-host-kidney-capsule
#15
Xin Wen, Ira Kurtz, Michael L Paine
Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis. Patients with mutations in the SLC4A4 gene and Slc4a4-null mice present with dysplastic enamel, amongst other pathologies. Loss of NBCe1 function leads to local abnormalities in enamel matrix pH regulation. Loss of NBCe1 function also results in systemic acidemic blood pH. Whether local changes in enamel pH and/or a decrease in systemic pH are the cause of the abnormal enamel phenotype is currently unknown...
2014: PloS One
https://www.readbyqxmd.com/read/24515290/nbce1-as-a-model-carrier-for-understanding-the-structure-function-properties-of-na%C3%A2-%C2%BA-coupled-slc4-transporters-in-health-and-disease
#16
REVIEW
Ira Kurtz
SLC4 transporters are membrane proteins that in general mediate the coupled transport of bicarbonate (carbonate) and share amino acid sequence homology. These proteins differ as to whether they also transport Na(+) and/or Cl(-), in addition to their charge transport stoichiometry, membrane targeting, substrate affinities, developmental expression, regulatory motifs, and protein-protein interactions. These differences account in part for the fact that functionally, SLC4 transporters have various physiological roles in mammals including transepithelial bicarbonate transport, intracellular pH regulation, transport of Na(+) and/or Cl(-), and possibly water...
August 2014: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/24477681/nbce1a-dimer-assemble-visualized-by-bimolecular-fluorescence-complementation
#17
Min-Hwang Chang, An-Ping Chen, Michael F Romero
Mutations in the electrogenic Na(+)/HCO3(-) cotransporter (NBCe1) that cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts in patients are recessive. Parents and siblings of these affected individuals seem asymptomatic although their tissues should make some mutant NBCe1 protein. Biochemical studies with AE1 and NBCe1 indicate that both, and probably all, Slc4 members form dimers. However, the physiologic implications of dimerization have not yet been fully explored. Here, human NBCe1A dimerization is demonstrated by biomolecular fluorescence complementation (BiFC)...
March 15, 2014: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/24391589/proximal-renal-tubular-acidosis-mediated-by-mutations-in-nbce1-a-unraveling-the-transporter-s-structure-functional-properties
#18
REVIEW
Ira Kurtz, Quansheng Zhu
NBCe1 belongs to the SLC4 family of base transporting membrane proteins that plays a significant role in renal, extrarenal, and systemic acid-base homeostasis. Recent progress has been made in characterizing the structure-function properties of NBCe1 (encoded by the SLC4A4 gene), and those factors that regulate its function. In the kidney, the NBCe1-A variant that is expressed on the basolateral membrane of proximal tubule is the key transporter responsible for overall transepithelial bicarbonate absorption in this nephron segment...
December 19, 2013: Frontiers in Physiology
https://www.readbyqxmd.com/read/24121512/a-substrate-access-tunnel-in-the-cytosolic-domain-is-not-an-essential-feature-of-the-solute-carrier-4-slc4-family-of-bicarbonate-transporters
#19
Volodymyr Shnitsar, Jing Li, Xuyao Li, Charles Calmettes, Arghya Basu, Joseph R Casey, Trevor F Moraes, Reinhart A F Reithmeier
Anion exchanger 1 (AE1; Band 3; SLC4A1) is the founding member of the solute carrier 4 (SLC4) family of bicarbonate transporters that includes chloride/bicarbonate AEs and Na(+)-bicarbonate co-transporters (NBCs). These membrane proteins consist of an amino-terminal cytosolic domain involved in protein interactions and a carboxyl-terminal membrane domain that carries out the transport function. Mutation of a conserved arginine residue (R298S) in the cytosolic domain of NBCe1 (SLC4A4) is linked to proximal renal tubular acidosis and results in impaired transport function, suggesting that the cytosolic domain plays a role in substrate permeation...
November 22, 2013: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/24101904/molecular-mechanisms-of-renal-and-extrarenal-manifestations-caused-by-inactivation-of-the-electrogenic-na-hco3-cotransporter-nbce1
#20
REVIEW
George Seki, Shoko Horita, Masashi Suzuki, Osamu Yamazaki, Tomohiko Usui, Motonobu Nakamura, Hideomi Yamada
The electrogenic Na(+)-HCO3 (-) cotransporter NBCe1 plays an essential role in bicarbonate absorption from renal proximal tubules, but also mediates the other biological processes in extrarenal tissues such as bicarbonate secretion from pancreatic ducts, maintenance of tissue homeostasis in eye, enamel maturation in teeth, or local pH regulation in synapses. Homozygous mutation in NBCe1 cause proximal renal tubular acidosis (pRTA) associated with extrarenal manifestations such as short stature, ocular abnormalities, enamel abnormalities, and migraine...
2013: Frontiers in Physiology
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