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"Distal renal tubular acidosis"

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https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#1
Majdi Nagara, Gregori Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Voskarides Konstantinos, 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
#2
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/28934385/hearing-loss-without-overt-metabolic-acidosis-in-atp6v1b1-deficient-mrl-mice-a-new-genetic-model-for-non-syndromic-deafness-with-enlarged-vestibular-aqueducts
#3
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/28892961/calcium-on-mitral-valve-decipher-aetiopathogenesis
#4
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/28839447/hypokalemic-paralysis-a-hidden-card-of-several-autoimmune-diseases
#5
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
#6
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/28803436/acute-regulated-expression-of-pendrin-in-human-urinary-exosomes
#7
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
#8
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
https://www.readbyqxmd.com/read/28775128/refining-diagnostic-approaches-in-nephrolithiasis-incomplete-distal-renal-tubular-acidosis
#9
EDITORIAL
David S Goldfarb
No abstract text is available yet for this article.
September 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28775126/furosemide-fludrocortisone-test-and-clinical-parameters-to-diagnose-incomplete-distal-renal-tubular-acidosis-in-kidney-stone-formers
#10
Nasser A Dhayat, Michael W Gradwell, Ganesh Pathare, Manuel Anderegg, Lisa Schneider, David Luethi, Cedric Mattmann, Orson W Moe, Bruno Vogt, Daniel G Fuster
BACKGROUND AND OBJECTIVES: Incomplete distal renal tubular acidosis is a well known cause of calcareous nephrolithiasis but the prevalence is unknown, mostly due to lack of accepted diagnostic tests and criteria. The ammonium chloride test is considered as gold standard for the diagnosis of incomplete distal renal tubular acidosis, but the furosemide/fludrocortisone test was recently proposed as an alternative. Because of the lack of rigorous comparative studies, the validity of the furosemide/fludrocortisone test in stone formers remains unknown...
September 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28646128/%C3%AE-copi-mediates-the-retention-of-kae1-g701d-protein-in-golgi-apparatus-a-mechanistic-explanation-of-distal-renal-tubular-acidosis-associated-with-the-g701d-mutation
#11
Natapol Duangtum, Mutita Junking, Suratchanee Phadngam, Nunghathai Sawasdee, Andrea Castiglioni, Komgrid Charngkaew, Thawornchai Limjindaporn, Ciro Isidoro, Pa-Thai Yenchitsomanus
Mutations of the 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) or 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...
July 17, 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
#12
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
#13
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
#14
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
#15
REVIEW
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
#16
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
#17
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
#18
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
#19
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.
June 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
#20
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
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