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"Distal renal tubular acidosis"

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https://www.readbyqxmd.com/read/28092281/renal-tubular-acidosis
#1
Fernando Santos, Helena Gil-Peña, Silvia Alvarez-Alvarez
PURPOSE OF REVIEW: To facilitate the understanding and knowledge of renal tubular acidosis by providing a summarized information on the known clinical and biochemical characteristics of this group of diseases, by updating the genetic and molecular bases of the primary forms renal tubular acidosis and by examining some issues regarding the diagnosis of distal renal tubular acidosis (RTA) in the daily clinical practice. RECENT FINDINGS: The manuscript presents recent findings on the potential of next-generation sequencing to disclose new pathogenic variants in patients with a clinical diagnosis of primary RTA and negative Sanger sequencing of known genes...
January 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28063842/relationship-between-urinary-calcium-and-bone-mineral-density-in-patients-with-calcium-nephrolithiasis
#2
Khashayar Sakhaee, Naim M Maalouf, John Poindexter, Beverley Adams-Huet, Orson W Moe
BACKGROUND: Calcium nephrolithiasis is associated with an increased risk of osteoporosis and fracture. Hypercalciuria has been assumed to be pathogenic for bone loss in kidney stone formers (KSF), although this association was shown in small cross-sectional studies. We explored the association of urine calcium (UCaV) with bone mineral density (BMD) in KSF. METHODS: We retrospectively studied BMD in KSF. Excluded were subjects with hypercalcemia, chronic bowel disease, primary hyperparathyroidism, distal renal tubular acidosis or endogenous creatinine clearance <40 ml/min...
January 4, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28005240/complicated-pregnancies-in-inherited-distal-renal-tubular-acidosis-importance-of-acid-base-balance
#3
Harald Seeger, Peter Salfeld, Rüdiger Eisel, Carsten A Wagner, Nilufar Mohebbi
Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis...
December 22, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27994869/erratum-a-novel-heterozygous-mutation-in-the-atp6v0a4-gene-encoding-the-v-atpase-a4-subunit-in-an-adult-patient-with-incomplete-distal-renal-tubular-acidosis
#4
Eri Imai, Shuzo Kaneko, Takayasu Mori, Tomokazu Okado, Shinichi Uchida, Yusuke Tsukamoto
[This corrects the article on p. 424 in vol. 9, PMID: 27274828.].
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27994859/primary-sclerosing-cholangitis-a-new-cause-of-distal-renal-tubular-acidosis
#5
Valentin Goutaudier, Ilan Szwarc, Jean-Emmanuel Serre, Georges-Philippe Pageaux, Àngel Argilés, Jean Ribstein
We describe the first case of distal renal tubular acidosis (dRTA) associated with primary sclerosing cholangitis. A 26-year-old Lao-Thai male patient presented with severe jaundice, metabolic acidosis and hypokalaemia. He was diagnosed of dRTA. Liver transplantation resulted in correction of electrolyte disturbances and hyperbilirubinaemia. A fludrocortisone-furosemide test revealed normal urinary acidification, demonstrating no residual dRTA. This observation suggests that dRTA may be an early manifestation of bilirubin-associated nephropathy or the consequence of an immune mechanism...
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27942182/acquired-bartter-syndrome-following-gentamicin-therapy
#6
J Singh, M L Patel, K K Gupta, S Pandey, A Dinkar
Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS), or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7(th) day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management...
November 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27932475/intercalated-cell-depletion-and-vacuolar-h-atpase-mistargeting-in-an-ae1-r607h-knockin-model
#7
Rizwan Mumtaz, Francesco Trepiccione, J Christopher Hennings, Antje K Huebner, Bettina Serbin, Nicolas Picard, A K M Shahid Ullah, Teodor G Păunescu, Diane E Capen, Rawad M Lashhab, Isabelle Mouro-Chanteloup, Seth L Alper, Carsten A Wagner, Emmanuelle Cordat, Dennis Brown, Dominique Eladari, Christian A Hübner
Distal nephron acid secretion is mediated by highly specialized type A intercalated cells (A-ICs), which contain vacuolar H(+)-ATPase (V-type ATPase)-rich vesicles that fuse with the apical plasma membrane on demand. Intracellular bicarbonate generated by luminal H(+) secretion is removed by the basolateral anion-exchanger AE1. Chronically reduced renal acid excretion in distal renal tubular acidosis (dRTA) may lead to nephrocalcinosis and renal failure. Studies in MDCK monolayers led to the proposal of a dominant-negative trafficking mechanism to explain AE1-associated dominant dRTA...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27900972/failure-to-thrive-and-nephrocalcinosis-due-to-distal-renal-tubular-acidosis-a-rare-presentation-of-pediatric-lupus-nephritis
#8
Madhumita Nandi, Mrinal Kanti Das, Sukanta Nandi
A 9-year-old female child was initially diagnosed of having nephrocalcinosis with distal renal tubular acidosis (dRTA) while investigating for short stature. She later on developed features of nephrotic syndrome (NS) while on treatment for RTA. Investigation for the cause of NS revealed very strong serological evidence in favor of systemic lupus erythematosus (SLE). Histopathological confirmation could not be done due to bilateral severely contracted kidneys. There are a few case reports of dRTA as the presentation of SLE, but nephrocalcinosis with dRTA with subsequent manifestation of SLE has hitherto not been reported in literature...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27889732/distal-renal-tubular-acidosis-associated-with-celiac-disease-and-thyroiditis
#9
Amit Kumar Satapathy, Sapna Mittal, Vandana Jain
BACKGROUND: Association of distal renal tubular acidosis (RTA) with autoimmune diseases is extremely rare in children. CASE CHARACTERISTICS: 12-year-old girl with distal RTA. Despite resolution of acidosis on bicarbonate, she continued to have poor growth and delayed puberty. Investigations revealed autoimmune thyroiditis and celiac disease. OUTCOME: Levothyroxine and gluten-free diet were initiated. Child gained height and weight and had onset of puberty after gluten withdrawal...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27866471/distal-renal-tubular-acidosis-without-renal-impairment-after-use-of-tenofovir-a-case-report
#10
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/27767102/a-single-nucleotide-polymorphism-in-kidney-anion-exchanger-1-gene-is-associated-with-incomplete-type-1-renal-tubular-acidosis
#11
Takumi Takeuchi, Mami Hattori-Kato, Yumiko Okuno, Atsushi Kanatani, Masayoshi Zaitsu, Koji Mikami
Various conditions including distal renal tubular acidosis (dRTA) can induce stone formation in the kidney. dRTA is characterized by an impairment of urine acidification in the distal nephron. dRTA is caused by variations in genes functioning in intercalated cells including SLC4A1/AE1/Band3 transcribing two kinds of mRNAs encoding the Cl(-)/HCO3(-) exchanger in erythrocytes and that expressed in α-intercalated cells (kAE1). With the acid-loading test, 25% of urolithiasis patients were diagnosed with incomplete dRTA...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27752013/transient-distal-renal-tubular-acidosis-following-hump-nosed-viper-bite-two-cases-from-sri-lanka
#12
Ranga M Weerakkody, Pushpa N Lokuliyana, Ruchika D Lanerolle
Hump-nosed viper (Hypnale hypnale; HNV) is one of the six major snake species in Sri Lanka that cause envenomation. Nephrotoxicity, coagulopathy, and neurotoxicity are wellrecognized features of its envenomation. Type 4 renal tubular acidosis (RTA4) has only once been described previously in this condition, and we report two further cases. Two patients aged 53 and 51 presented following HNV bites with acute kidney injury and microangiopathic hemolytic anemia. Both underwent multiple cycles of hemodialysis until the polyuric phase was reached...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27735149/clinical-and-aetiological-spectrum-of-hypokalemic-flaccid-paralysis-in-western-odisha
#13
Biranchi Narayan Mohapatra, Sujit Kumar Lenka, Manoranjan Acharya, Chakradhar Majhi, Gouri Oram, Khetra Mohan Tudu
OBJECTIVE: To study the clinical profile of hypokalemic flaccid paralysis (HKFP) and to evaluate its causes. METHODS: Fifty cases of hypokalemic flaccid paralysis (HKFP) admitted between November 2012 to October 2014 were taken up in the study. Serum potassium level < 3.5 mmol/ltr has been taken as hypokalemia. All cases were studied for spot and/or 24 hour urinary sodium / potassium, serum potassium / calcium / magnesium. Hypokalemic periodic paralysis (HPP) were diagnosed if there was spot/24 hour urine potassium excretion < 20mmol/ltr in presence of hypokalemia and flaccid weakness without other causes...
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27728182/sjogren-s-syndrome-presenting-as-hypokalemic-paralysis-due-to-distal-renal-tubular-acidosis
#14
Krishna Prasad A
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27718309/band-3-null-vienna-a-novel-homozygous-slc4a1-p-ser477x-variant-causing-severe-hemolytic-anemia-dyserythropoiesis-and-complete-distal-renal-tubular-acidosis
#15
Leo Kager, Lesley J Bruce, Petra Zeitlhofer, Joanna F Flatt, Tabita M Maia, M Leticia Ribeiro, Bernhard Fahrner, Gerhard Fritsch, Kaan Boztug, Oskar A Haas
We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 null(VIENNA) ), which was caused by a novel nonsense mutation c.1430C>A (p.Ser477X) in exon 12 of SLC4A1. We also update on the previous band 3 null(COIMBRA) patient, thereby elucidating the physiological implications of total loss of AE1/band 3. Besides transfusion-dependent severe hemolytic anemia and complete distal renal tubular acidosis, dyserythropoiesis was identified in the band 3 null(VIENNA) patient, suggesting a role for band 3 in erythropoiesis...
October 8, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27704510/nephrocalcinosis-in-tunisian-children
#16
Manel Jellouli, Wiem Karoui, Kamel Abidi, Yousra Hammi, Ouns Naija, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Background Nephrocalcinosis is rare in children. Its etiologies are multiple. The aim of this study was to analyze the etiology of nephrocalcinosis in Tunisian children. Methods This retrospective study was conducted in the department of pediatrics in Charles Nicolle Hospital during a period of 10 years (2001-2010). Results There were 40 children. The mean age was 3.5 years. The most common signs and symptoms at presentation were growth retardation (42.5%) and hematuria (53.8%). At presentation, renal failure was detected in 70% of patients...
April 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/27493007/the-need-for-genetic-study-to-diagnose-some-cases-of-distal-renal-tubular-acidosis
#17
Manuel Heras Benito, Miguel A Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27441596/characteristics-of-renal-papillae-in-kidney-stone-formers
#18
Tracy P Marien, Nicole L Miller
The mechanism of kidney stone formation is not well understood. In order to better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones. A review of the literature was performed identifying thirteen studies that endoscopically mapped and biopsied renal papillae of different stone formers...
December 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/27374687/recurrent-attacks-of-hypokalemic-quadriparesis-an-unusual-presentation-of-primary-sj%C3%A3-gren-syndrome
#19
Shiva Seirafian, Mohammad Shafie, Amin Abedini, Bahram Pakzad, Peyman Roomizadeh
We herein report the case of a 64-year old woman with recurrent attacks of hypokalemic quadriparesis which resulted from distal renal tubular acidosis (dRTA) secondary to Sjögren syndrome. The patient presented with sudden onset quadriparesis. A physical examination showed symmetric weakness of all four limbs. Severe hypokalemia (1.8 mEq/L), accompanied by normal anion gap metabolic acidosis, a positive urine anion gap and an inappropriately high urine pH pointed toward the diagnosis of dRTA. Further investigations disclosed primary Sjögren syndrome, which had not previously been recognized...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27367914/recent-advances-in-understanding-renal-ammonia-metabolism-and-transport
#20
I David Weiner, Jill W Verlander
PURPOSE OF REVIEW: The purpose of this review is to provide a succinct description of the recent findings that advance our understanding of the fundamental renal process of ammonia metabolism and transport in conditions relevant to the clinician. RECENT FINDINGS: Recent studies advance our understanding of renal ammonia metabolism. Mechanisms through which chronic kidney disease and altered dietary protein intake alter ammonia excretion have been identified. Lithium, although it can acutely cause distal renal tubular acidosis, was shown with long-term use to increase urinary ammonia excretion, and this appeared to be mediated, at least in part, by increased Rhcg expression...
September 2016: Current Opinion in Nephrology and Hypertension
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