keyword
https://read.qxmd.com/read/38513628/nephrolithiasis-associated-to-nephrocalcinosis-is-primarily-composed-of-carbonate-apatite
#1
JOURNAL ARTICLE
Teresa Antonia Kiener, Elena Moré, Michael Franzen, Janne Cadamuro, Christoph Schwarz, Carsten Bergmann, Hermann Salmhofer
INTRODUCTION: This study was designed to determine the mineral composition of calculi in nephrocalcinosis with nephrolithiasis, diagnose the underlying disease and monitor the course of renal function in patients with nephrocalcinosis-nephrolithiasis. METHODS: Renal calculi extruded in a series of eight patients with nephrocalcinosis were analysed using Fourier transmission infrared spectrometry. In four patients, next generation sequencing (NGS) using a nephrocalcinosis-nephrolithiasis panel was performed to determine the nature of the underlying disease...
March 21, 2024: Kidney & Blood Pressure Research
https://read.qxmd.com/read/38482264/expanding-the-phenotypic-spectrum-chronic-kidney-disease-in-a-patient-with-combined-oxidative-phosphorylation-defect-21
#2
A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija
INTRODUCTION: Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of COXPD21 patients, mostly with distal renal tubular acidosis. CASE REPORT: We report on the first COXPD21 patient with generalized tubular dysfunction and early childhood progression to chronic kidney disease (CKD)...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38447554/medullary-sponge-kidney-and-its-relationship-with-primary-distal-renal-tubular-acidosis-case-reports-and-a-comprehensive-genetics-first-approach
#3
Gerrit van den Berg, Laura Claus, Bert van der Zwaag, Phillis Lakeman, Lotte Kaasenbrood, John A Sayer, Marc Lilien, Albertien M van Eerde
Medullary sponge kidney (MSK) is a description of radiographic features. However, the pathogenesis of MSK remains unclear. MSK is supposed to be the cause of secondary distal renal tubular acidosis (dRTA), although there are case reports suggesting that MSK is a complication of primary dRTA. In addition to these reports, we report three patients with metabolic acidosis and MSK, in whom primary dRTA is confirmed by molecular genetic analyses of SLC4A1 and ATP6V1B1 genes. With a comprehensive genetics first approach using the 100,000 Genomes Rare Diseases Project dataset the association between MSK and primary dRTA is examined...
March 6, 2024: Nephron
https://read.qxmd.com/read/38440019/severe-electrolyte-abnormalities-and-distal-renal-tubular-acidosis-in-the-setting-of-apremilast-use-for-psoriatic-arthritis-a-case-report
#4
Brody M Fogleman, Emilie McKinnon, Schuyler Nebeker, Kedareeshwar S Arukala
Renal tubular acidosis (RTA) involves dysfunction of the renal tubular system, which leads to electrolyte abnormalities and acid-base dysregulation. The case we present here discusses a patient with a past medical history of psoriatic arthritis who presented to the emergency department with progressive generalized weakness and anorexia in the preceding four weeks. She was found to have profound hypokalemia (1.2 mmol/L), hyperchloremic metabolic acidosis, and multiple other electrolyte abnormalities. Following an extensive workup, her principle problem was deemed to be distal (type 1) RTA...
February 2024: Curēus
https://read.qxmd.com/read/38332484/foxp1-is-required-for-renal-intercalated-dell-differentiation-and-acid-base-regulation
#5
JOURNAL ARTICLE
Shi-Ting Wu, Yu Feng, Renhua Song, Yanmiao Qi, Lin Li, Dongbo Lu, Yixuan Wang, Wenrun Wu, Angela Morgan, Xiaohong Wang, Yin Xia, Renjing Liu, Stephen I Alexander, Justin Wong, Yuzhen Zhang, Xiangjian Zheng
BACKGROUND: Kidney collecting ducts are comprised of principal cells and intercalated cells, with intercalated cells playing a crucial role in kidney acid-base regulation through H+ and HCO3- secretion. Despite its significance, the molecular mechanisms controlling intercalated cell development remain incompletely understood. METHODS: To investigate the specific role of Foxp1 in kidney tubular system, we specifically deleted Foxp1 expression in kidney distal nephrons and collecting ducts...
February 9, 2024: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/38293885/-intracranial-hypertension-syndrome-as-an-unusual-manifestation-of-sj%C3%A3-gren-s-syndrome-report-of-one-case
#6
JOURNAL ARTICLE
Dominga García, Cristián Labarca
Neurological manifestations such as polyneuropathy are reported in 8-49% of cases with Sjögren's Syndrome (SjS), but central nervous system involvement is seldom described. We report a 46-year-old woman with a history of SjS with distal renal tubular acidosis and autoimmune thyroiditis. She consulted in the emergency room for a five-days history of holocranial headache and explosive vomiting. Fundoscopy showed bilateral papilledema. Brain computed tomography (CT) without contrast showed diffuse encephalic edema, with effacement ofsulci and restriction ofperitruncal cisterns...
March 2023: Revista Médica de Chile
https://read.qxmd.com/read/38289796/hypokalemic-paralysis-revealing-primary-sjogren-s-syndrome-a-case-report
#7
JOURNAL ARTICLE
Pitambar Khanal, Sandip Paudel, Subodh Chapagain, Saurav Thapa, Madan Gyawali
UNLABELLED: Sjogren's syndrome is a rare chronic autoimmune disease characterised by dry eyes and dry mouth due to autoimmune destruction of the lacrimal and salivary glands, which can occur concurrently with other autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, or thyroiditis. It can lead to renal complications such as interstitial nephritis and glomerulonephritis, with distal/ type 1 renal tubular acidosis which may result in life-threatening electrolyte imbalance...
September 1, 2023: JNMA; Journal of the Nepal Medical Association
https://read.qxmd.com/read/38282934/a-conundrum-of-severe-hypokalaemic-quadriparesis-acute-kidney-injury-and-lung-involvement-as-the-initial-presentation-of-catastrophic-primary-sj%C3%A3-gren-s-syndrome-is-it-a-new-entity-a-case-report
#8
Vishal Mangal, Gaurav Vohra, Sudipt Adhikari, Anil Vasudeva
Sjögren's syndrome (SS) is a systemic chronic autoimmune disorder that classically affects the exocrine glands. Only 15% of the patients with primary SS (pSS) develop extraglandular symptoms involving the lungs, kidneys, joints, nervous system, and skin. Hypokalaemic paralysis is a rare presentation. The most common cause of hypokalaemia is distal renal tubular acidosis. The prevalence of clinically significant lung involvement in pSS is 9-20 %. Primary SS is an indolent disease leading to increased morbidity and poor quality of life...
December 2023: Mediterranean journal of rheumatology
https://read.qxmd.com/read/38277730/a-ph-imbalance-is-linked-to-autophagic-dysregulation-of-inner-ear-hair-cells-in-atp6v1ba-deficient-zebrafish
#9
JOURNAL ARTICLE
Mayo Ikeuchi, Masanori Inoue, Hiroaki Miyahara, Wulan Apridita Sebastian, Shuya Miyazaki, Takashi Takeno, Kyoko Kiyota, Shinji Yano, Hiroshi Shiraishi, Nobuyuki Shimizu, Reiko Hanada, Akihiko Yoshimura, Kenji Ihara, Toshikatsu Hanada
V-ATPase is an ATP hydrolysis-driven proton pump involved in the acidification of intracellular organelles and systemic acid-base homeostasis through H+ secretion in the renal collecting ducts. V-ATPase dysfunction is associated with hereditary distal renal tubular acidosis (dRTA). ATP6V1B1 encodes the B1 subunit of V-ATPase that is integral to ATP hydrolysis and subsequent H+ transport. Patients with pathogenic ATP6V1B1 mutations often exhibit an early onset of sensorineural hearing loss. However, the mechanisms underlying this association remain unclear...
January 19, 2024: Biochemical and Biophysical Research Communications
https://read.qxmd.com/read/38275162/rare-renal-proximal-tubular-dysfunctions-in-primary-biliary-cholangitis
#10
JOURNAL ARTICLE
Xiaoxiao Shi, Tianchen Guo, Yubing Wen, Wei Ye, Wenling Ye, Ke Zheng, Yan Qin, Xuemei Li, Fengchun Zhang, Limeng Chen
INTRODUCTION: Renal involvement of primary biliary cholangitis (PBC) usually presents as distal renal tubular acidosis. Proximal tubular (PT) dysfunctions in PBC were rarely reported with unclear clinicopathological characteristics and renal prognosis. METHODS: We identified 11 cases of PBC with PT dysfunctions (PBC-PT). Their medical document, kidney pathology, and follow-up data were retrospectively reviewed and analyzed. RESULTS: The 11 PBC-PT patients were mainly middle-aged (57...
December 2024: Renal Failure
https://read.qxmd.com/read/38226082/a-case-report-of-paralysis-and-respiratory-difficulty-in-a-patient-with-a-recent-history-of-complicated-pregnancy-an-uncommon-expression-of-distal-renal-tubular-acidosis
#11
Pirya Kumari, Fnu Jitidhar, Fnu Kiran, Ameet Kumar, Deepak Kumar
Renal tubular acidosis type 1 (RTA-1) is a disorder where kidneys are unable to acidify urine, which ultimately results in normal anion gap metabolic acidosis. Its initial presentations and subsequent clinical manifestations can vary depending on the underlying cause and severity of the disease. We report a case of a 26-year-old female with a recent history of complicated pregnancy. She presented to a tertiary care hospital with quadriplegia and shortness of breath and required ventilator support. The extensive workup revealed that the patient had RTA-1 in association with Sjögren's syndrome...
December 2023: Curēus
https://read.qxmd.com/read/38213044/hypokalemia-related-to-distal-renal-tubular-acidosis-as-an-initial-presentation-of-primary-sjogren-s-syndrome
#12
JOURNAL ARTICLE
I Gede Yasa Asmara, Maruhum Bonar Hasiholan Marbun
Hypokalemia due to loss of potassium through the kidneys can be caused by distal Renal Tubular Acidosis (dRTA). The etiology of dRTA can be primary due to genetic defects or secondary to autoimmune diseases, especially Sjogren's syndrome (SS). The occurrence of dRTA in SS patients is low, at only 5% of cases. This case was interesting because dRTA was the initial clinical manifestation that led to the diagnosis of SS in the patient. A 48-year-old woman came with complaints of recurrent weakness. The patient was routinely hospitalized with severe hypokalemia and received potassium supplementation...
October 2023: Acta Medica Indonesiana
https://read.qxmd.com/read/38178934/renal-calcification-in-children-with-renal-tubular-acidosis-what-a-paediatrician-%C3%A2-should-%C3%A2-know%C3%A2
#13
REVIEW
Mohammed Al-Beltagi, Nermin Kamal Saeed, Adel Salah Bediwy, Reem Elbeltagi, Samir Hasan, Mohamed Basiony Hamza
Renal tubular acidosis (RTA) can lead to renal calcification in children, which can cause various complications and impair renal function. This review provides pediatricians with a comprehensive understanding of the relationship between RTA and renal calcification, highlighting essential aspects for clinical management. The article analyzed relevant studies to explore the prevalence, risk factors, underlying mechanisms, and clinical implications of renal calcification in children with RTA. Results show that distal RTA (type 1) is particularly associated with nephrocalcinosis, which presents a higher risk of renal calcification...
December 9, 2023: World Journal of Clinical Pediatrics
https://read.qxmd.com/read/38054114/hypokalemic-paralysis-and-hypocalcemic-tetany-paradoxical-duality-in-a-case-of-sjogren-s-syndrome
#14
Abhinav Kadam, Sourya Acharya, Sunil Kumar, Samarth Shukla, Rucha Sawant
A 26-year-old female was hospitalized with acute lower motor neuron quadriplegia. Laboratory tests pointed to the presence of distal renal tubular acidosis, which was characterized by hyperchloremic metabolic acidosis, severe hypokalemia, alkaline urine, and a positive urinary anion gap. She also had aminoaciduria, hyperphosphaturia, hypophosphatemia, and normoglycemic glycosuria, all of which are indicative of dysfunction of proximal tubules. Further investigation confirmed Sjogren's syndrome. Strangely, our patient also experienced carpopedal spasms and had low calcium and magnesium levels...
November 2023: Curēus
https://read.qxmd.com/read/38012047/mitochondrial-dysfunction-in-kidney-tubulopathies
#15
REVIEW
Charlotte A Hoogstraten, Joost G Hoenderop, Jeroen H F de Baaij
Mitochondria play a key role in kidney physiology and pathology. They produce ATP to fuel energy-demanding water and solute reabsorption processes along the nephron. Moreover, mitochondria contribute to cellular health by the regulation of autophagy, (oxidative) stress responses, and apoptosis. Mitochondrial abundance is particularly high in cortical segments, including proximal and distal convoluted tubules. Dysfunction of the mitochondria has been described for tubulopathies such as Fanconi, Gitelman, and Bartter-like syndromes and renal tubular acidosis...
November 27, 2023: Annual Review of Physiology
https://read.qxmd.com/read/37990364/the-b1-h-atpase-atp6v1b1-subunit-in-non-type-a-intercalated-cells-is-required-for-driving-pendrin-activity-and-the-renal-defence-against-alkalosis
#16
JOURNAL ARTICLE
Soline Bourgeois, Jana Kovacikova, Milica Bugarski, Carla Bettoni, Nicole Gehring, Andrew Hall, Carsten A Wagner
BACKGROUND: Non-type-A intercalated cells (IC) in the collecting duct system express the luminal Cl - /HCO 3- exchanger pendrin and apical and/or basolateral H + -ATPases containing the B1 subunit isoform. Non-type-A ICs excrete bicarbonate during metabolic alkalosis. Mutations in the B1 subunit (ATP6V1B1) cause distal renal tubular acidosis due to its role in acid secretory type-A ICs. The function of B1 in non-type-A ICs has remained elusive. METHODS: We examined responses of Atp6v1b1-/- and Atp6v1b1+/+ mice to an alkali load and to chronic treatment with furosemide...
November 22, 2023: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/37927490/lysinuric-protein-intolerance-exhibiting-renal-tubular-acidosis-fanconi-syndrome-in-a-japanese-woman
#17
Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima
Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47-year-old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets. At the age of 3 years, she demonstrated a failure to thrive...
November 2023: JIMD Reports
https://read.qxmd.com/read/37918992/2022-recommendations-of-the-afu-lithiasis-committee-medical-management%C3%A2-%C3%A2-from-diagnosis-to-treatment
#18
REVIEW
S Lemoine, P Dahan, J P Haymann, P Meria, C Almeras
The morphological-compositional analysis of urinary stones allows distinguishing schematically several situations: dietary, digestive, metabolic/hormonal, infectious and genetic problems. Blood and urine testing are recommended in the first instance to identify risk factors of urinary stone disease in order to avoid recurrence or progression. The other objective is to detect a potential underlying pathology associated with high risk of urinary stone disease (e.g. primary hyperparathyroidism, primary or enteric hyperoxaluria, cystinuria, distal renal tubular acidosis) that may require specific management...
November 2023: Progrès en Urologie
https://read.qxmd.com/read/37901710/genetic-diagnosis-and-treatment-of-inherited-renal-tubular-acidosis
#19
REVIEW
Wenkai Guo, Pengcheng Ji, Yuansheng Xie
BACKGROUND: Renal tubular acidosis (RTA) is caused by various disruptions to the secretion of H+ by distal renal tubules and/or dysfunctional reabsorption of HCO3 - by proximal renal tubules, which causes renal acidification dysfunction, ultimately leading to a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal anion gap. With the development of molecular genetics and gene sequencing technology, inherited RTA has also attracted attention, and an increasing number of RTA-related pathogenic genes have been discovered and reported...
October 2023: Kidney Diseases
https://read.qxmd.com/read/37842502/central-pontine-myelinolysis-and-hypokalemic-paralysis-as-presenting-manifestations-of-sjogren-s-syndrome
#20
Ashraf V V, Sajith Narayanan, Remesh Bhasi, Ramakrishnan Kg
Neurological involvement in Sjogren's syndrome can have varied manifestations and can precede the classical sicca symptoms of Sjogren's syndrome. A 32-year-old woman presented with acute quadriparesis and dysarthria. She had severe hypokalemia, and an MRI of the brain showed a lesion in the central pons that was hyperintense on T2 and fluid-attenuated inversion recovery (FLAIR) sequences sparing the periphery, a trident appearance characteristic of central pontine myelinolysis (CPM). On further evaluation, she was found to have distal renal tubular acidosis (dRTA) due to primary Sjogren's syndrome...
September 2023: Curēus
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