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Renal tubular acidosis

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https://www.readbyqxmd.com/read/28577018/a-case-of-kidney-involvement-in-primary-sj%C3%A3-gren-s-syndrome
#1
Farid Arman, Hania Shakeri, Niloofar Nobakht, Anjay Rastogi, Mohammad Kamgar
BACKGROUND Sjögren's syndrome is an autoimmune disorder caused by the infiltration of monocytes in epithelial glandular and extra-glandular tissues. Hallmark presentations include mouth and eye dryness. Although renal involvement is uncommon in primary Sjögren's syndrome (pSS), patients may experience renal tubular acidosis type I (RTA I), tubulointerstitial nephritis, diabetes insipidus (DI), nephrolithiasis, and Fanconi syndrome. However, it is atypical to see more than 1 of these manifestations in a single patient...
June 3, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28566416/alport-s-syndrome-with-type-4-renal-tubular-acidosis
#2
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/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/28540205/clinicopathological-spectrum-of-snake-bite-induced-acute-kidney-injury-from-india
#4
Sanjay Vikrant, Ajay Jaryal, Anupam Parashar
AIM: To study the clinico-pathological spectrum of snake bite-induced acute kidney injury (AKI). METHODS: A retrospective study of patients admitted at Indira Gandhi Medical College Hospital, Shimla with snake bite-induced AKI from July 2003 to June 2016. Medical records were evaluated for patient's information on demographic, clinical characteristics, complications and outcome. Outcomes of duration of hospital stay, requirement for intensive care unit support, treatment with dialysis, survival and mortality were analyzed...
May 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#5
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28515613/secondary-sjogren-s-syndrome-presenting-with-distal-tubular-acidosis-and-quadriparesis
#6
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/28509132/transient-fanconi-syndrome-in-two-preterm-infants-with-hydronephrosis-and-urinary-tract-infection
#7
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, Naoko Amano, Yasuaki Kobayashi, Midori Awazu
Type IV renal tubular acidosis is known to occur in obstructive uropathy with urinary tract infection. Fanconi syndrome, however, has not been described in these settings. We report two preterm infants who developed Fanconi syndrome associated with hydronephrosis and urinary tract infection. Patient 1 is a boy with 21 trisomy, bilateral renal hypoplasia and bilateral vesicoureteral reflux delivered at 35 weeks' gestation. At postnatal day 42, he developed Fanconi syndrome after urinary tract infection, which persisted until the surgical correction of vesicoureteral reflux...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#8
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28433099/other-organ-involvement-and-clinical-aspects-of-wilson-disease
#9
Karolina Dzieżyc, Tomasz Litwin, Anna Członkowska
Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28428931/the-role-of-renal-proximal-tubule-transport-in-the-regulation-of-blood-pressure
#10
REVIEW
Shoko Horita, Motonobu Nakamura, Masashi Suzuki, Nobuhiko Satoh, Atsushi Suzuki, Yukio Homma, Masaomi Nangaku
The electrogenic sodium/bicarbonate cotransporter 1 (NBCe1) on the basolateral side of the renal proximal tubule plays a pivotal role in systemic acid-base homeostasis. Mutations in the gene encoding NBCe1 cause severe proximal renal tubular acidosis accompanied by other extrarenal symptoms. The proximal tubule reabsorbs most of the sodium filtered in the glomerulus, contributing to the regulation of plasma volume and blood pressure. NBCe1 and other sodium transporters in the proximal tubule are regulated by hormones, such as angiotensin II and insulin...
March 2017: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/28409346/development-and-diseases-of-the-collecting-duct-system
#11
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
#12
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
#13
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/28381666/acquired-fanconi-syndrome-in-two-dogs-following-long-term-consumption-of-pet-jerky-treats-in-japan-case-report
#14
Akira Yabuki, Tomoko Iwanaga, Urs Giger, Mariko Sawa, Moeko Kohyama, Osamu Yamato
Renal Fanconi syndrome has recently been associated with the ingestion of pet jerky treats from China in mostly small breed dogs in North America, Australia and Europe. We report here about two dogs with Fanconi syndrome following pet jerky treats exposure in Japan. A mixed-breed dog and a French bulldog showed weight loss, polyuria and polydipsia. For years, the owners had been feeding large quantities of pet jerky treats containing chicken prepared in China. Diagnostics revealed glycosuria without hyperglycemia, severe aminoaciduria, and in one case also ketonuria, hypokalemia and metabolic acidosis...
May 3, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28375568/fludrocortisone-therapy-for-persistent-hyperkalaemia
#15
S J H Dobbin, J R Petrie, M E J Lean, G A McKay
Hyperkalaemia is often seen in individuals with renal impairment and may be exacerbated, particularly in diabetic nephropathy, by hyporeninaemic aldosterone deficiency (type 4 renal tubular acidosis) which may, in turn, be caused or complicated by chronic interstitial nephritis or drug therapy (Table 1). Fludrocortisone is a synthetic corticosteroid with mineralocorticoid activity that increases sodium resorption and promotes potassium excretion in the distal convoluted renal tubule. It therefore seems a logical option to reverse hyperkalaemia in type 4 renal tubular acidosis; however, we can find no published guideline recommending this use [1,2]...
April 4, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28353596/adult-onset-hypophosphatemic-osteomalacia-associated-with-sjogren-syndrome-clinical-case-report
#16
Guohua Shen, Yuwei Zhang, Shuang Hu, Bin Liu, Anren Kuang
RATIONALE: Hypophosphatemic osteomalacia (HO) is a metabolic bone disease, exhibiting different etiologies such as genetic mutation, tumor induction, dysimmunity, or renal disease. Sjogren's syndrome (SS) is a connective tissue disorder commonly involving exocrine glands; however kidney involvement is also encountered, leading to abnormal phosphorus metabolism, even HO. PATIENT CONCERNS: A 47-year-old female patient presented progressively worsening pain in the chest wall, back and bilateral lower extremities as well as muscle weakness was referred to our department...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28284376/the-tubulointerstitial-pathophysiology-of-progressive-kidney-disease
#17
REVIEW
H William Schnaper
Accumulating evidence suggests that the central locus for the progression of CKD is the renal proximal tubule. As injured tubular epithelial cells dedifferentiate in attempted repair, they stimulate inflammation and recruit myofibroblasts. At the same time, tissue loss stimulates remnant nephron hypertrophy. Increased tubular transport workload eventually exceeds the energy-generating capacity of the hypertrophied nephrons, leading to anerobic metabolism, acidosis, hypoxia, endoplasmic reticulum stress, and the induction of additional inflammatory and fibrogenic responses...
March 2017: Advances in Chronic Kidney Disease
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.
March 3, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28228792/malabsorption-syndrome-as-a-rare-cause-of-nephrocalcinosis
#20
Rui Abreu, Cláudia Bento, Luís Oliveira, Teresa Morgado
Nephrocalcinosis is characterized by calcification of kidney parenchyma and can be caused by an increased amount of calcium, phosphate or oxalate in urinary excretion. We report a 35-year-old female with nephrocalcinosis. She had fitful steatorrhea since last year. Physical examination was normal. Analytic exams found normal renal function and ionogram. Primary hyperparathyroidism, renal tubular acidosis and sarcoidosis were excluded. Urinalysis showed mild hematuria, without proteinuria and 24-hour urine collection exhibited hyperoxaluria...
September 2016: Clinical Cases in Mineral and Bone Metabolism
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