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Tubular renal acidosis

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https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#1
Kun-Lin Wu, Chih-Jen Cheng, Chih-Chen Sung, Ming-Hua Tseng, Yu-Juei Hsu, Sung-Sen Yang, Tom Chau, Shih-Hua Lin
BACKGROUND: Uncovering the correct diagnosis of chronic hypokalemia with potassium (K(+)) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia. METHODS: Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over five years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries and hormones-as well as genetic analysis were determined...
February 14, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28203565/tubular-dysfunction-mimicking-dent-s-disease-in-2-infants-born-with-extremely-low-birth-weight
#2
Midori Awazu, Mie Arai, Shoko Ohashi, Hirotaka Takahashi, Takashi Sekine, Kazushige Ikeda
Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#3
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28127482/successful-management-of-refractory-type-1-renal-tubular-acidosis-with-amiloride
#4
Patrick Oguejiofor, Robert Chow, Kenneth Yim, Bernard G Jaar
A 28-year-old female with history of hypothyroidism, Sjögren's Syndrome, and Systemic Lupus Erythematosus (SLE) presented with complaints of severe generalized weakness, muscle pain, nausea, vomiting, and anorexia. Physical examination was unremarkable. Laboratory test showed hypokalemia at 1.6 mmol/l, nonanion metabolic acidosis with HCO3 of 11 mmol/l, random urine pH of 7.0, and urine anion gap of 8 mmol/l. CT scan of the abdomen revealed bilateral nephrocalcinosis. A diagnosis of type 1 RTA likely secondary to Sjögren's Syndrome was made...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28092281/renal-tubular-acidosis
#5
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
#6
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/28031439/successful-treatment-of-renal-tubular-acidosis-and-recurrent-secondary-struvite-kidney-stones-with-rituximab-in-a-patient-with-primary-sj%C3%A3-gren-s-syndrome
#7
Gernot Schilcher, Christoph Schwarz, Josef Hermann
No abstract text is available yet for this article.
December 27, 2016: Rheumatology
https://www.readbyqxmd.com/read/28005240/complicated-pregnancies-in-inherited-distal-renal-tubular-acidosis-importance-of-acid-base-balance
#8
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/27999512/review-of-the-diagnostic-evaluation-of-renal-tubular-acidosis
#9
REVIEW
Julian Yaxley, Christine Pirrone
BACKGROUND: The term renal tubular acidosis (RTA) describes a group of uncommon kidney disorders characterized by defective acid-base regulation. Reaching the diagnosis of RTA is complex and often delayed, resulting in suboptimal treatment. METHODS: This article provides an overview of the clinical features of RTA and diagnostic approaches in a format accessible to physicians for everyday use. RESULTS: The 3 major forms of disease are classified by their respective tubular transport defects, each of which produces persistent hyperchloremic metabolic acidosis...
2016: Ochsner Journal
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
#10
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
#11
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/27993148/blood-transfusion-improves-renal-oxygenation-and-renal-function-in-sepsis-induced-acute-kidney-injury-in-rats
#12
Lara Zafrani, Bulent Ergin, Aysegul Kapucu, Can Ince
BACKGROUND: The effects of blood transfusion on renal microcirculation during sepsis are unknown. This study aimed to investigate the effect of blood transfusion on renal microvascular oxygenation and renal function during sepsis-induced acute kidney injury. METHODS: Twenty-seven Wistar albino rats were randomized into four groups: a sham group (n = 6), a lipopolysaccharide (LPS) group (n = 7), a LPS group that received fluid resuscitation (n = 7), and a LPS group that received blood transfusion (n = 7)...
December 20, 2016: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/27966241/clinical-analysis-of-hyperkalemic-renal-tubular-acidosis-caused-by-calcineurin-inhibitors-in-solid-organ-transplant-recipients
#13
W Lin, L Mou, H Tu, L Zhu, J Wang, J Chen, Y Hu
WHAT IS KNOWN AND OBJECTIVE: Calcineurin inhibitor (CNI)-based immunosuppressive regimen is widely used for preventing rejection in solid organ transplantation. Hyperkalemic renal tubular acidosis (RTA) caused by CNI is uncommon and potentially underappreciated. We reported four such cases to increase awareness of this risk and to provide recommendations for its management based on our experience. CASE SUMMARY: Four middle-aged males underwent solid organ transplant (two kidneys, one liver, one heart) and were treated with CNI-based immunosuppressive regimen (one cyclosporine A, three tacrolimus)...
February 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/27942182/acquired-bartter-syndrome-following-gentamicin-therapy
#14
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/27942179/mixed-acid-base-disorder-secondary-to-topiramate-use-in-traumatic-brain-injury
#15
S Golla, U Anandh, A Balasubramaniam
We report a case of a man with traumatic brain injury. He was started on to prophylactic topiramate which led to a mixed acid-base disorder. He had severe metabolic acidosis secondary to renal tubular acidification defect and respiratory alkalosis secondary to hyperventilation. Withdrawal of the offending drug led to the prompt resolution of the acid-base disturbance.
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
#16
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
#17
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
#18
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/27882009/functional-and-structural-abnormalities-of-the-kidney-and-urinary-tract-in-severely-malnourished-children-a-hospital-based-study
#19
Misbah Anjum, Khemchand N Moorani, Ifra Sameen, Muhammad Ayaz Mustufa, Shazia Kulsoom
OBJECTIVES: The association of malnutrition and systemic diseases like chronic kidney disease (CKD) is well known. Various urinary tract abnormalities may be associated with malnutrition. So objective of current study was to determine the frequency of functional and structural urinary tract abnormalities in severely malnourished children admitted in Nutritional Rehabilitation Unit (NRU) of a tertiary care facility, Karachi. METHODS: This descriptive cases series of 78 children was conducted in NRU from October 2014 - March 2015...
September 2016: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/27872640/nucleotide-analogue-related-proximal-renal-tubular-dysfunction-during-long-term-treatment-of-chronic-hepatitis-b-a-cross-sectional-study
#20
Abhasnee Sobhonslidsuk, Jirachaya Wanichanuwat, Pawin Numthavaj, Areepan Sophonsritsuk, Supanna Petraksa, Alongkorn Pugasub, Paisan Jittorntam, Anucha Kongsomgan, Sittiruk Roytrakul, Bunyong Phakdeekitcharoen
Background. There have been few reports of nucleotide analogue-related renal tubular dysfunction (RTD) in CHB patients. We assessed the prevalence and presentation of nucleotide analogue-related proximal RTD. Methods. A cross-sectional study was performed in CHB patients taking nucleotide analogues. Inclusion criteria were patients who were on adefovir or tenofovir as mono- or add-on therapy with lamivudine (LAM) >1 year. Serum and urine were collected. Fractional excretion of phosphate (FEPO4), uric acid (FEUA), and potassium was calculated...
2016: Gastroenterology Research and Practice
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