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"Distal renal tubular acidosis"

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https://www.readbyqxmd.com/read/28646128/%C3%AE-copi-mediates-the-retention-of-kae1-g701d-protein-in-golgi-apparatus-a-mechanistic-explanation-of-drta-associated-g701d-mutation
#1
Natapol Duangtum, Mutita Junking, Suratchanee Phadngam, Nunghathai Sawasdee, Andrea Castiglioni, Komgrid Charngkaew, Thawornchai Limjindaporn, Ciro Isidoro, Pa-Thai Yenchitsomanus
Mutations of solute carrier family 4 member 1 ( SLC4A1 ) gene encoding kidney anion (chloride/bicarbonate ion) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Different SLC4A1 mutations give rise to mutant kAE1 proteins with distinct defects in protein trafficking. The mutant kAE1 protein may be retained in endoplasmic reticulum (ER), Golgi apparatus, or mis-targeted to the apical membrane, failing to display its function at the baso-lateral membrane. The ER-retained mutant kAE1 interacts with calnexin chaperone protein; disruption of this interaction permits the mutant kAE1 to reach the cell surface and display anion exchange activity...
June 23, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28638614/loss-of-kae1-expression-in-collecting-ducts-of-end-stage-kidneys-from-a-family-with-slc4a1-g609r-associated-distal-renal-tubular-acidosis
#2
Alfred A Vichot, Zsuzsanna K Zsengellér, Boris E Shmukler, Nancy D Adams, Neera K Dahl, Seth L Alper
Distal renal tubular acidosis caused by missense mutations in kidney isoform of anion exchanger 1 (kAE1/SLC4A1), the basolateral membrane Cl(-)/HCO3(-) exchanger of renal alpha-intercalated cells, has been extensively investigated in heterologous expression systems but rarely in human kidneys. The preferential apical localization of distal renal tubular acidosis (dRTA)-associated kAE1 mutants R901X, G609R and M909T in cultured epithelial monolayers has not been examined in human kidney. Here, we present kidney tissues from dRTA-affected siblings heterozygous for kAE1 G609R, characterized by predominant absence rather than mistargeting of kAE1 in intercalated cells...
February 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28553046/amelogenesis-imperfecta-with-distal-renal-tubular-acidosis-a-novel-syndrome
#3
R A Misgar, Z Hassan, A I Wani, M I Bashir
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group...
May 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28515613/secondary-sjogren-s-syndrome-presenting-with-distal-tubular-acidosis-and-quadriparesis
#4
Kartik Munta, Manimala Rao Surath, K Seshikiran
A 52-year-old female patient was admitted to Intensive Care Unit with complaints of quadriparesis. Investigations revealed distal renal tubular acidosis (DRTA) secondary to Sjogren's syndrome with involvement of the parotid and thyroid glands. Laboratory investigations showed hyperchloremic metabolic acidosis and an alkaline urine pH with clinical signs of sicca syndrome. Sjogren's syndrome is associated with DRTA and occurrences of quadriparetic hypokalemia, nephrolithiasis, and osteomalacia can be prevented with early diagnosis and lifelong treatment with potassium and alkali replacement...
April 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28409346/development-and-diseases-of-the-collecting-duct-system
#5
Lihe Chen, Paul J Higgins, Wenzheng Zhang
The collecting duct of the mammalian kidney is important for the regulation of extracellular volume, osmolarity, and pH. There are two major structurally and functionally distinct cell types: principal cells and intercalated cells. The former regulates Na(+) and water homeostasis, while the latter participates in acid-base homeostasis. In vivo lineage tracing using Cre recombinase or its derivatives such as CreGFP and CreER(T2) is a powerful new technique to identify stem/progenitor cells in their native environment and to decipher the origins of the tissue that they give rise to...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28407820/-clinical-features-of-hereditary-distal-renal-tubular-acidosis-and-slc4a1-gene-mutation
#6
Juan DU, Qian-Qian Pang, Yan Jiang, Ou Wang, Mei Li, Xiao-Ping Xing, Wei-Bo Xia
OBJECTIVE: To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1. METHODS: Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations. RESULTS: Three patients in these two families (two of them were mother and son) were diagnosed with dRTA with typical clinical features, including short stature, metabolic acidosis, alkaline urine, hypokalemia, and nephrocalcinosis...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28400690/transient-distal-renal-tubular-acidosis-in-organophosphate-poisoning
#7
Ram Narayan, Mansoor C Abdulla, Jemshad Alungal
Renal complications due to organophosphate poisoning are very rare. We are presenting a unique case of transient distal renal tubular acidosis due to organophosphate poisoning, which to the best of our knowledge is the first of its kind. An elderly female after deliberate self-harm with ingestion of chlorpyrifos had multiple ventricular arrhythmias due to hypokalemia secondary to distal renal tubular acidosis which improved completely after treatment.
March 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#8
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28258487/erratum-to-clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#9
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
No abstract text is available yet for this article.
March 3, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#10
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 5 years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries, and hormones-as well as genetic analysis, were determined...
July 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#11
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...
June 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28092281/renal-tubular-acidosis
#12
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...
April 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28063842/relationship-between-urinary-calcium-and-bone-mineral-density-in-patients-with-calcium-nephrolithiasis
#13
Khashayar Sakhaee, Naim M Maalouf, John Poindexter, Beverley Adams-Huet, Orson W Moe
PURPOSE: 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, although this association was shown in small cross-sectional studies. We explored the association of urine calcium with bone mineral density in kidney stone formers. MATERIALS AND METHODS: We retrospectively studied bone mineral density in kidney stone formers. Excluded were subjects with hypercalcemia, chronic bowel disease, primary hyperparathyroidism, distal renal tubular acidosis or endogenous creatinine clearance less than 40 ml per minute...
June 2017: Journal of Urology
https://www.readbyqxmd.com/read/28005240/complicated-pregnancies-in-inherited-distal-renal-tubular-acidosis-importance-of-acid-base-balance
#14
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...
June 2017: 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
#15
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
#16
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
#17
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
#18
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...
May 2017: 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
#19
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
#20
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
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