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Tubular renal acidosis

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https://www.readbyqxmd.com/read/29134448/hyperammonemia-associated-with-distal-renal-tubular-acidosis-or-urinary-tract-infection-a-systematic-review
#1
Caterina M Clericetti, Gregorio P Milani, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Olivier Giannini
BACKGROUND: Hyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular acidosis and urinary tract infection may also result in hyperammonemia. METHODS: A systematic review of the literature on hyperammonemia secondary to distal renal tubular acidosis and urinary tract infection was conducted. RESULTS: We identified 39 reports on distal renal tubular acidosis or urinary tract infections in association with hyperammonemia published between 1980 and 2017...
November 13, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29116606/fanconi-syndrome-and-neonatal-diabetes-phenotypic-heterogeneity-in-patients-with-glut2-defects
#2
Priyanka Khandelwal, Aditi Sinha, Vandana Jain, Jayne Houghton, Pankaj Hari, Arvind Bagga
Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6  months of age...
November 8, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29093127/renal-tubular-acidosis
#3
EDITORIAL
Jonathan Pelletier, Rasheed Gbadegesin, Betty Staples
No abstract text is available yet for this article.
November 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#4
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29062185/a-case-of-renal-tubular-acidosis-with-sjogren-s-syndrome-showing-paradoxical-block-of-pth-due-to-severe-hypomagnesemia
#5
B Vinodh Kumar, M Sivalingam, G Shiva Kumaran, Balambal Balakrishnan
Distal renal tubular acidosis (RTA) manifests either as Complete/Classical form or Incomplete/Latent Form. Distal RTA causes normal anion gap metabolic acidosis and hypokalemia. Interstitial Nephritis is the most frequent renal manifestation of Sjogren's, which presents as Distal RTA in 25-40% of patients with Sjogren's syndrome. Magnesium deficiency is frequently associated with hypokalemia. Although serum calcium is the main physiological control for the secretion of parathyroid hormone (PTH) by the parathyroid, serum magnesium can also exert similar effects...
October 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29042903/renal-tubular-acidosis-in-patients-with-primary-sj%C3%A3-gren-s-syndrome
#6
Su Woong Jung, Eun Ji Park, Jin Sug Kim, Tae Won Lee, Chun Gyoo Ihm, Sang Ho Lee, Ju-Young Moon, Yang Gyun Kim, Kyung Hwan Jeong
Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29029882/anesthetic-considerations-in-a-parturient-with-renal-tubular-acidosis-and-hypothyroidism-undergoing-cesarean-delivery
#7
P Sangwan, B Srinivasan, S Janweja, S Jangid
Renal tubular acidosis, associated with hypothyroidism, is rare. We present the case of a woman with known renal tubular acidosis and treated hypothyroidism who underwent emergency cesarean delivery under uneventful combined spinal-epidural anesthesia. The rationale for choosing the anesthetic technique and the potential risks associated with anesthesia and renal tubular acidosis are discussed.
August 31, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#8
Majdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Konstantinos Voskarides, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28994037/pathophysiology-diagnosis-and-treatment-of-inherited-distal-renal-tubular-acidosis
#9
REVIEW
Nilufar Mohebbi, Carsten A Wagner
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Mutations in SLC4A1-(AE1) are inherited either in an autosomal dominant manner or in a recessive one. ATP6V1B and ATP6V0A4 mutations affect two different subunits of the vacuolar H(+)-ATPase proton-pump, the B1 and a4 subunits, and are inherited in an autosomal recessive manner...
October 9, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28966756/preventive-kidney-stones-continue-medical-education
#10
REVIEW
Farahnak Assadi, Mastaneh Moghtaderi
Nephrolithiasis is a common health problem across the globe with a prevalence of 15%-20%. Idiopathic hypercalciuria is the most common cause of nephrolithiasis, and calcium oxalate stones are the most common type of stones in idiopathic hypercalciuric patients. Calcium phosphate stones are frequently associated with other diseases such as renal tubular acidosis type 1, urinary tract infections, and hyperparathyroidism. Compared with flat abdominal film and renal sonography, a noncontrast helical computed tomography scan of the abdomen is the diagnostic procedure of choice for detection of small and radiolucent kidney stones with sensitivity and specificity of nearly 100%...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28934385/hearing-loss-without-overt-metabolic-acidosis-in-atp6v1b1-deficient-mrl-mice-a-new-genetic-model-for-non-syndromic-deafness-with-enlarged-vestibular-aqueducts
#11
Cong Tian, Leona H Gagnon, Chantal Longo-Guess, Ron Korstanje, Susan M Sheehan, Kevin K Ohlemiller, Angela D Schrader, Jaclynn M Lett, Kenneth R Johnson
Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28919626/addison-s-disease-a-diagnostic-dilemma
#12
S Afroz, S Bain
Adrenal insufficiency is a rare disease, but is life threatening when overlooked. Addison's disease may be an acquired form of adrenal insufficiency due to the destruction or dysfunction of the adrenal cortex. It affects both glucocorticoid and mineralocorticoid function. Main presenting symptoms of Addison's disease such as fatigue, anorexia, vomiting and convulsion often mimics central nervous system (CNS) infections. We describe a case of Addison's disease who was initially misdiagnosed as a case of meningo-encephalitis subsequently renal tubular acidosis and finally Addison's disease...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28892961/calcium-on-mitral-valve-decipher-aetiopathogenesis
#13
Rohan P Parikh, Ashlesh Tiwari, Sunil Washimkar, Pradeep Deshmukh, Mukund Deshpande
We hereby describe an unusual case of a 17-year-old female with severe mitral regurgitation secondary to heavily calcified immobile valve leaflets. Along with the mitral valve, corneas were also calcified, due to congenital systemic metabolic disorder, distal renal tubular acidosis. Histopathology proved that there was no intrinsic pathology of the mitral valve. Congenital distal renal tubular acidosis with normokalemia presenting with severe mitral and corneal calcification is not known. This case notes important clinical features and is thought to add to the existing knowledge regarding the disease...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28888090/type-3-renal-tubular-acidosis-associated-with-growth-hormone-deficiency
#14
Yin Ping Liew, Timothy A Rogers, Jane L Garb, Holley F Allen, Edward O Reiter, Thomas J Campfield, Vikas R Dharnidharka, Gregory L Braden
BACKGROUND: We identified two boys with type 3 renal tubular acidosis (RTA) and growth hormone deficiency and we sought to differentiate them from children with classic type 1 distal RTA. METHODS: We reviewed all children <6 years of age with RTA referred over a 13-year period and compared the growth response to alkali therapy in these two boys and in 28 children with only type 1 distal RTA. RESULTS: All children with type 1 RTA reached the 5th percentile or higher on CDC growth charts within 2 years of alkali therapy...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#15
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28839447/hypokalemic-paralysis-a-hidden-card-of-several-autoimmune-diseases
#16
Yelitza Velarde-Mejía, Rocío Gamboa-Cárdenas, Manuel Ugarte-Gil, César Pastor Asurza
Acute hypokalemic paralysis is a rare and potentially fatal condition, with few related causes, one of which highlights distal renal tubular acidosis (dRTA). Distal renal tubular acidosis is a rare complication of several autoimmune diseases such as systemic lupus erythematosus, Sjögren's syndrome, and Hashimoto thyroiditis. We report a case of a lupic patient who presented rapidly progressive quadriparesis in the context of active renal disease. Research revealed severe refractory hypokalemia, metabolic acidosis, and alkaline urine suggestive of dRTA...
2017: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28835864/hypokalemic-paralysis-due-to-primary-sj%C3%A3-gren-syndrome-case-report-and-review-of-the-literature
#17
A Garza-Alpirez, A C Arana-Guajardo, J A Esquivel-Valerio, M A Villarreal-Alarcón, D A Galarza-Delgado
Tubulointerstitial nephritis (TIN) is the main renal involvement associated with primary Sjögren syndrome (pSS). TIN can manifest as distal renal tubular acidosis (RTA), nephrogenic diabetes insipidus, proximal tubular dysfunction, and others. We present a 31-year-old female with hypokalemic paralysis due to distal RTA (dRTA). She received symptomatic treatment and hydroxychloroquine with a good response. There is insufficient information on whether to perform a kidney biopsy in these patients or not. The evidence suggests that there is an inflammatory background and therefore a potential serious affection to these patients, such as hypokalemic paralysis...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28828886/topiramate-and-metabolic-acidosis-an-evolving-story
#18
Shruti Gupta, Jennifer J Gao, Michael Emmett, Andrew Z Fenves
Topiramate is an anticonvulsant that is being increasingly used for a number of different off-label indications. Its inhibition of carbonic anhydrase isoenzymes can lead to metabolic acidosis, elevated urine pH, reduced urine citrate, and hypercalciuria, thereby creating a milieu that is ripe for calcium phosphate stone formation. In this review, we describe a case of topiramate-induced metabolic acidosis. We review the frequency of metabolic acidosis among children and adults, as well as the mechanism of hyperchloremic metabolic acidosis and renal tubular acidosis in topiramate users...
September 1, 2017: Hospital Practice (Minneapolis)
https://www.readbyqxmd.com/read/28803436/acute-regulated-expression-of-pendrin-in-human-urinary-exosomes
#19
Ganesh Pathare, Nasser Dhayat, Nilufar Mohebbi, Carsten A Wagner, Lydie Cheval, Thomas J Neuhaus, Daniel G Fuster
It is well known that pendrin, an apical Cl(-)/HCO3(-)exchanger in type B intercalated cells, is modulated by chronic acid-base disturbances and electrolyte intake. To study this adaptation further at the acute level, we analyzed urinary exosomes from individuals subjected to oral acute acid, alkali, and NaCl loading. Acute oral NH4Cl loading (n = 8) elicited systemic acidemia with a drop in urinary pH and an increase in urinary NH4 excretion. Nadir urinary pH was achieved 5 h after NH4Cl loading. Exosomal pendrin abundance was dramatically decreased at 3 h after acid loading...
August 12, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28794148/tubulointerstitial-nephritis-with-igm-positive-plasma-cells
#20
Naoki Takahashi, Takako Saeki, Atsushi Komatsuda, Chishio Munemura, Takeaki Fukui, Naofumi Imai, Noriyuki Homma, Tsuguru Hatta, Ken-Ichi Samejima, Takashi Fujimoto, Hiroki Omori, Yumi Ito, Yudai Nishikawa, Mamiko Kobayashi, Yukie Morikawa, Sachiko Fukushima, Seiji Yokoi, Daisuke Mikami, Kenji Kasuno, Hideki Kimura, Tomoyuki Nemoto, Yasunari Nakamoto, Kiyonao Sada, Manabu Sugai, Hironobu Naiki, Haruyoshi Yoshida, Ichiei Narita, Yoshihiko Saito, Masayuki Iwano
Infiltration by IgG-positive plasma cells is a common finding in tubulointerstitial nephritis. Indeed, it has been thought that CD138-positive mature plasma cells secrete mainly IgG, and the occurrence of tubulointerstitial nephritis with CD138-positive plasma cells secreting IgM has rarely been reported. Routine immunofluorescence of fresh frozen sections is considered the gold standard for detection of immune deposits. However, the immunoenzyme method with formalin-fixed, paraffin-embedded sections is superior for detecting IgM- or IgG-positive cells within the renal interstitium, thus histologic variants may often go undetected...
August 9, 2017: Journal of the American Society of Nephrology: JASN
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