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Renal tubular acidosis, type 4

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https://www.readbyqxmd.com/read/28803436/acute-regulated-expression-of-pendrin-in-human-urinary-exosomes
#1
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/28658721/-prevalence-of-allergic-diseases-in-children-with-secondary-renal-tubular-acidosis-attending-a-tertiary-care-pediatric-center
#2
Blanca María Morfín-Maciel, Silvestre García-De la Puente, Aurora Bojórquez-Ochoa, Alfonso Huante-Anaya, Socorro Orozco-Martínez, Samuel Zaltzman-Girshevich, Elizabeth Guzmán-Vázquez
BACKGROUND: It has been suggested a high prevalence of allergic disease in children with RTA. OBJECTIVE: To describe the prevalence of allergic diseases in children with secondary RTA (renal tubular acidosis) in the nephrology department of the National Institute of Pediatrics (NIP), México. METHODS: An observational, prospective, cross-sectional, descriptive study. Children with secondary RTA < 18 years who attended the outpatient nephrology service in the NIP for 24 months, were included...
April 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28566416/alport-s-syndrome-with-type-4-renal-tubular-acidosis
#3
Thomas McDonnell, Chukwuma Chukwu, Christopher Wong
This case report details a 51-year-old man with Alport's syndrome resulting in chronic nephritis with stable renal function and sensorineural deafness. The patient was being investigated for persistently raised potassium refractory to dietary and pharmacological modification. Subsequently, the patient was found to have type 4 renal tubular acidosis, and potassium normalised with the addition of fludrocortisone.
May 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28375568/fludrocortisone-therapy-for-persistent-hyperkalaemia
#4
S J H Dobbin, J R Petrie, M E J Lean, G A McKay
BACKGROUND: Type 4 renal tubular acidosis causes hyperkalaemia, for which diabetes and medications commonly used in this patient group are aetiological factors. Here we describe the novel use of fludrocortisone in this difficult condition. CASE REPORT: A 55-year-old woman with complex co-morbidities, including Type 2 diabetes (HbA1c 37 mmol/mol 5.5%), was admitted with renal failure. Bloods on admission: eGFR 25 ml/min, creatinine 184 ?mol/L, urea 35.9 mmol/L, sodium 128 mmol/L, potassium 5...
July 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/27752013/transient-distal-renal-tubular-acidosis-following-hump-nosed-viper-bite-two-cases-from-sri-lanka
#5
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/27109516/tyrosinemia-type-i-case-series-with-response-to-treatment-to-ntbc
#6
Ira Shah, Forum Shah
We present four children with tyrosinemia and their response to NTBC [2-[2-nitro-4-trifluoromethylbenzoyl]-1, 3-cyclohexanedione]. One child received NTBC for only 3 months after which he was diagnosed to have hepatocellular carcinoma and underwent a living-related liver transplantation. The child is doing well post-transplant. Remaining three children have been on NTBC for almost 3 years, have normal liver functions, undetectable urine succinylacetone, and no portal hypertension or renal tubular acidosis...
May 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/26989116/renal-tubular-acidosis-type-4-in-pregnancy
#7
Adam Daniel Jakes, Kevin Baynes, Catherine Nelson-Piercy
We describe the clinical course of renal tubular acidosis (RTA) type 4 in pregnancy, which has not been previously published. Renal tubular acidosis type 4 is a condition associated with increased urinary ammonia secondary to hypoaldosteronism or pseudohypoaldosteronism. Pregnancy may worsen the hyperkalaemia and acidosis of renal tubular acidosis type 4, possibly through an antialdosterone effect. We advise regular monitoring of potassium and pH throughout pregnancy to ensure safe levels are maintained.
March 17, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26672867/electrolyte-and-acid-base-disturbances-in-diabetes-mellitus
#8
LETTER
Sumit Mohan
No abstract text is available yet for this article.
December 17, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/26672866/electrolyte-and-acid-base-disturbances-in-diabetes-mellitus
#9
LETTER
Martijn C G J Brouwers
No abstract text is available yet for this article.
December 17, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/26672865/electrolyte-and-acid-base-disturbances-in-diabetes-mellitus
#10
LETTER
Angela M Righi, Michael J Peeters, Bryan Dotson
No abstract text is available yet for this article.
December 17, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/26672864/electrolyte-and-acid-base-disturbances-in-diabetes-mellitus
#11
LETTER
Mark L Graber
No abstract text is available yet for this article.
December 17, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/26672863/electrolyte-and-acid-base-disturbances-in-diabetes-mellitus
#12
LETTER
Biff F Palmer, Deborah J Clegg
No abstract text is available yet for this article.
December 17, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/26453614/the-vacuolar-h-atpase-b1-subunit-polymorphism-p-e161k-associates-with-impaired-urinary-acidification-in-recurrent-stone-formers
#13
Nasser A Dhayat, Andre Schaller, Giuseppe Albano, John Poindexter, Carolyn Griffith, Andreas Pasch, Sabina Gallati, Bruno Vogt, Orson W Moe, Daniel G Fuster
Mutations in the vacuolar-type H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA). We previously identified a single-nucleotide polymorphism (SNP) in the human B1 subunit (c.481G>A; p.E161K) that causes greatly diminished pump function in vitro To investigate the effect of this SNP on urinary acidification, we conducted a genotype-phenotype analysis of recurrent stone formers in the Dallas and Bern kidney stone registries. Of 555 patients examined, 32 (5.8%) were heterozygous for the p...
May 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/26022043/profile-of-renal-diseases-in-iraqi-children-a-single-center-report
#14
Shatha Hussain Ali, Fadhil Shanan Hussien, Haider Abd Al-Amer
Renal disease in hospitalized children can be difficult to diagnose early as it may exhibit few symptoms, unlike in adults. This study reports the epidemiological data, percentages and types of renal disorders in children seen at the pediatric nephrology center of the AlKadhymia Teaching Hospital, Baghdad, Iraq. A retrospective review of the charts of all patients, aged between one month and 14 years, who were admitted and followed-up for a period of three years from January 2009 till January 2012 were studied...
May 2015: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/25957470/-renal-involvement-in-glycogen-storage-disease-type-1-practical-issues
#15
Amel Ben Chehida, Takoua Bensmaïl, Faten Ben Rehouma, Rim Ben Abdelaziz, Hatem Azzouz, Hela Boudabbous, Mohamed Slim Abdelmoula, Sonia Abdelhak, Naziha Kaabachi, Hadhami Ben Turkia, Néji Tebib
AIM: To investigate risk factors of renal complications in glycogen storage disease type I, in order to identify practical implications for renal preservation. METHODS: A retrospective study of 38 patients with glycogen storage disease type I. RESULTS: The patients studied were 8.6 years old in average (1.5 to 22 years) and were followed during 7.4 ± 4.5 years. Hypercalciuria was detected in 23 patients and was related to acidosis (P=0.028), higher lactate levels (5...
July 2015: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/25823989/clinical-and-laboratory-approaches-in-the-diagnosis-of-renal-tubular-acidosis
#16
REVIEW
Fernando Santos, Flor A Ordóñez, Débora Claramunt-Taberner, Helena Gil-Peña
In the absence of a gastrointestinal origin, a maintained hyperchloremic metabolic acidosis must raise the diagnostic suspicion of renal tubular acidosis (RTA). Unlike adults, in whom RTA is usually secondary to acquired causes, children most often have primary forms of RTA resulting from an inherited genetic defect in the tubular proteins involved in the renal regulation of acid-base homeostasis. According to their pathophysiological basis, four types of RTA are distinguished. Distal type 1 RTA, proximal type 2 RTA, mixed-type 3 RTA, and type 4 RTA can be differentiated based on the family history, the presenting manifestations, the biochemical profile, and the radiological findings...
December 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
#17
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/25533600/distal-renal-tubular-acidosis-with-multiorgan-autoimmunity-a-case-report
#18
Maria J van den Wildenberg, Ewout J Hoorn, Nilufar Mohebbi, Carsten A Wagner, Arend-Jan Woittiez, Peter A M de Vries, Gozewijn D Laverman
A 61-year-old woman with a history of pernicious anemia presented with progressive muscle weakness and dysarthria. Hypokalemic paralysis (serum potassium, 1.4 mEq/L) due to distal renal tubular acidosis (dRTA) was diagnosed. After excluding several possible causes, dRTA was considered autoimmune. However, the patient did not meet criteria for any of the autoimmune disorders classically associated with dRTA. She had very high antibody titers against parietal cells, intrinsic factor, and thyroid peroxidase (despite normal thyroid function)...
April 2015: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/25517796/mutations-in-exons-3-and-7-resulting-in-truncated-expression-of-human-atp6v1b1-gene-showing-structural-variations-contributing-to-poor-substrate-binding-causative-reason-for-distal-renal-tubular-acidosis-with-sensorineural-deafness
#19
Pasupuleti Santhosh Kumar, Katari Venkatesh, Gopal Sowjenya, Lokanathan Srikanth, Manne Mudhu Sunitha, Uppu Venkateswara Prasad, Vimjam Swarupa, Sthanikam Yeswanth, P Sri Ram Naveen, A Sridhar, V Siva Kumar, P V G K Sarma
Distal renal tubular acidosis (dRTA) is an autosomal recessive syndrome results defect in either proximal tubule bicarbonate reabsorption or in distal tubule H(+) secretion and is characterized by severe hyperchloraemic metabolic acidosis in childhood. dRTA is associated with functional variations in the ATP6V1B1 gene encoding β1 subunit of H(+)-ATPase, key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. In the present study, a 13-year-old male patient suffering with nephropathy and sensorineural deafness was reported in the Department of Nephrology...
2015: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/24914503/fanconi-syndrome-and-antiretrovirals-it-is-never-too-late
#20
REVIEW
Faraz Khan Luni, Abdur Rahman Khan, Rohini Prashar, Sandeep Vetteth, Joan M Duggan
Antiretroviral medications such as tenofovir have been associated with Fanconi syndrome (FS) usually identified within the first 1-29 months after exposure to the medication. We present a case of life-threatening FS which developed in a 37-year-old woman with HIV after 8 years of asymptomatic tenofovir use. The patient was diagnosed with HIV in 1996 at 20 years of age, hepatitis C 10 years later, and Staphylococcus aureus sepsis with secondary osteomyelitis of the spine 3 years before admission for FS. She developed nausea, vomiting, diarrhea, and generalized weakness over a 2-week time period and presented to the hospital...
March 2016: American Journal of Therapeutics
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