keyword
MENU ▼
Read by QxMD icon Read
search

tubulopathies

keyword
https://www.readbyqxmd.com/read/29666984/unusual-white-matter-involvement-in-east-syndrome-associated-with-novel-kcnj10-mutations
#1
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients. METHODS: We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.Asn232Glnfs*14and p...
April 17, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29617471/hypophosphatemic-rickets-case-report
#2
Marta Liliane de Almeida Maia, Ana Lucia Santos Abreu, Paulo Cesar Koch Nogueira, Maria Luiza Dautro Moreira do Val, João Tomas de Abreu Carvalhaes, Maria Cristina de Andrade
OBJECTIVE: Early diagnosis and immediate treatment of hypophosphatemic rickets is of utmost importance as it may prevent subsequent sequelae. This report aims at warning pediatricians to consider the presence of the disease. CASE DESCRIPTION: Description of the metabolic profile, creatinine clearance, nutritional status, weight and body structure of a patient who presented the clinical-laboratorial characteristics of hypophosphatemic rickets and was followed in an outpatient clinic for tubulopathies over the period of 12 months...
March 29, 2018: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/29606257/-ifosphamide-nephrotoxicity
#3
Gaël Ensergueix, Alexandre Karras
Ifosfamide is a cytotoxic drug usually used in malignant sarcomas. The nephrotoxicity of this agent has been described essentially among children, revealed by renal failure and proximal tubulopathy. We recently conducted a retrospective multicentre study, describing 34 adult patients admitted for ifosfamide nephrotoxicity. More than 80% of them presented with renal failure, diagnosed up to 48 months after ifosfamide administration. A Fanconi syndrome with hypophosphoremia, hypokaliemia, glucosuria and low-molecular weight proteinuria, was present in two third of all cases...
April 2018: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29498467/role-of-bicarbonate-supplementation-on-urine-uric-acid-crystals-and-diabetic-tubulopathy-in-adults-with-type-1-diabetes
#4
Petter Bjornstad, David M Maahs, Carlos A Roncal, Janet K Snell-Bergeon, Viral N Shah, Tamara Milagres, Samuel L Ellis, Matthew Hatch, Linh T Chung, Marian J Rewers, Satish Garg, David Z Cherney, Laura Pyle, Kristen J Nadeau, Richard J Johnson
Uricosuria and crystallization are increasingly recognized risk factors for diabetic tubulopathy. This pilot clinical trial aimed to determine the acute effect of urinary alkalinization using oral sodium bicarbonate (NaHCO3 ) on UA crystals in adults with type 1 diabetes (T1D). Adults with T1D, ages 18 to 65 years (n = 45, 60% female, HbA1c, 7.5 ± 1.2%, 20.2 ± 9.3 years duration) without chronic kidney disease (eGFR ≥60 mL/min/1.73 m2 and albumin-to-creatinine ratio < 30 mg/g) received 2 doses of 1950 mg oral NaHCO3 over 24 hours...
March 2, 2018: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/29497325/the-importance-of-the-thick-ascending-limb-of-henle-s-loop-in-renal-physiology-and-pathophysiology
#5
REVIEW
Miriam Zacchia, Giovanna Capolongo, Luca Rinaldi, Giovambattista Capasso
The thick ascending limb (TAL) of Henle's loop is a crucial segment for many tasks of the nephron. Indeed, the TAL is not only a mainstay for reabsorption of sodium (Na+ ), potassium (K+ ), and divalent cations such as calcium (Ca2+ ) and magnesium (Mg2+ ) from the luminal fluid, but also has an important role in urine concentration, overall acid-base homeostasis, and ammonia cycle. Transcellular Na+ transport along the TAL is a prerequisite for Na+ , K+ , Ca2+ , Mg2+ homeostasis, and water reabsorption, the latter through its contribution in the generation of the cortico-medullar osmotic gradient...
2018: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/29398133/simultaneous-sequencing-of-37-genes-identified-causative-mutations-in-the-majority-of-children-with-renal-tubulopathies
#6
Emma J Ashton, Anne Legrand, Valerie Benoit, Isabelle Roncelin, Annabelle Venisse, Maria-Christina Zennaro, Xavier Jeunemaitre, Daniela Iancu, William G Van't Hoff, Stephen B Walsh, Nathalie Godefroid, Annelies Rotthier, Jurgen Del Favero, Olivier Devuyst, Franz Schaefer, Lucy A Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas-Poussou, Detlef Bockenhauer
The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the diagnostic yield of a next generation sequencing panel assessing relevant disease genes in children followed through three national networks with a clinical diagnosis of a renal tubulopathy. DNA was amplified with a kit provided by the European Consortium for High-Throughput Research in Rare Kidney Diseases with nine multiplex PCR reactions...
April 2018: Kidney International
https://www.readbyqxmd.com/read/29390978/perioperative-risk-assessment-for-successful-kidney-transplant-in-leigh-syndrome-a-case-report
#7
Kathryn Ducharlet, Dominic Thyagarajan, Francesco Ierino, Lawrence P McMahon, Darren Lee
BACKGROUND: Leigh syndrome (LS) is a rare neurodegenerative mitochondrial disorder which typically presents in childhood but has a varied clinical course. Renal involvement such as proximal tubulopathy in patients with mitochondrial disorders has been described. However, end stage renal disease (ESRD) is uncommon and literature regarding patients undergoing kidney transplantation is limited. Successful deceased donor renal transplant has not been previously described in a patient with Leigh Syndrome...
February 1, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29368537/superior-efficacy-and-improved-renal-and-bone-safety-after-switching-from-a-tenofovir-disoproxil-fumarate-to-a-tenofovir-alafenamide-based-regimen-through-96-weeks-of-treatment
#8
Edwin DeJesus, Bernard Haas, Sorana Segal-Maurer, Moti N Ramgopal, Anthony Mills, Nicolas Margot, Ya-Pei Liu, Tariro Makadzange, Scott McCallister
We previously demonstrated superior efficacy and safety advantages in HIV-infected, virologically suppressed adults switched to a regimen containing tenofovir alafenamide (TAF) as compared with those remaining on a tenofovir disoproxil fumarate (TDF) regimen through week 48. We now report long-term data through week 96. In this randomized, active-controlled, multicenter, open-label, noninferiority trial (ClinicalTrials.gov No. NCT01815736), we randomized virologically suppressed (HIV-1 RNA <50 copies/ml) adults (2:1) to receive a once-daily, single-tablet regimen containing elvitegravir (EVG), cobicistat (COBI), emtricitabine (FTC), and TAF group or to continue one of four TDF-containing regimens (TDF group) for 96 weeks...
April 2018: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/29352486/adverse-effects-of-amphotericin-b-in-children-a-retrospective-comparison-of-conventional-and-liposomal-formulations
#9
Eden C Andrew, Nigel Curtis, Ben Coghlan, Noel Cranswick, Amanda Gwee
AIMS: Lipid formulations of amphotericin B, rather than conventional amphotericin (c-amB), are increasingly used despite limited data comparing these preparations in children. Data on the incidence of adverse effects with amphotericin B at standard doses are scarce. This study aimed to compare the adverse effects associated with standard doses of c-amB and liposomal amphotericin (l-amB) in children. METHODS: Children admitted to the Royal Children's Hospital Melbourne and treated with c-amB or l-amB between January 2010 and September 2013 were included...
May 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29345400/fludrocortisone-a-treatment-for-tubulopathy-post-paediatric-renal-transplantation-a-national-paediatric-nephrology-unit-experience
#10
S R Ali, I Shaheen, D Young, I Ramage, H Maxwell, D A Hughes, D Athavale, M G Shaikh
Calcineurin inhibitors post-renal transplantation are recognized to cause tubulopathies in the form of hyponatremia, hyperkalemia, and acidosis. Sodium supplementation may be required, increasing medication burden and potentially resulting in poor compliance. Fludrocortisone has been beneficial in addressing tubulopathies in adult studies, with limited paediatric data available. A retrospective review of data from an electronic renal database from December 2014 to January 2016 was carried out. Forty-seven post-transplant patients were reviewed with 23 (49%) patients on sodium chloride or bicarbonate...
January 18, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29319266/gitelman-syndrome-presenting-during-pregnancy-with-adverse-foetal-outcome
#11
N Nand, A R Deshmukh, R Mathur, V Chauhan, Brijlal
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29300302/splicing-analysis-of-exonic-ocrl-mutations-causing-lowe-syndrome-or-dent-2-disease
#12
Lorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, Felix Claverie-Martin
Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing...
January 4, 2018: Genes
https://www.readbyqxmd.com/read/29250691/nephrotic-syndrome-secondary-to-amyloidosis-in-a-patient-with-monoclonal-gammopathy-with-renal-significance-mgrs
#13
Andrei Niculae, Ileana Peride, Vlad Vinereanu, Daniela Rădulescu, Ovidiu Gabriel Bratu, Bogdan Florin Geavlete, Ionel Alexandru ChecheriŢă
Monoclonal gammopathy with renal significance (MGRS) is a relative new-described entity, diagnosed especially in older patients and deriving from the group with monoclonal gammopathy of undetermined significance (MGUS). Various renal lesions may arise in MGRS, according to the ultrastructural characteristics of the monoclonal immunoglobulin deposition in the kidney, from proliferative glomerulopathies and amyloidosis to light chain proximal tubulopathy and crystal-storing histiocytosis. Although both are considered premalign or non-malignant hematological conditions, kidney involvement in MGRS aggravates the prognosis of the patients and need to be treated aggressively...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29237739/salt-losing-tubulopathies-in-children-what-s-new-what-s-controversial
#14
Robert Kleta, Detlef Bockenhauer
Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists. Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences...
March 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29219892/toxicity-of-vincristine-combined-with-posaconazole-in-children-with-acute-lymphoblastic-leukemia
#15
Esra Pekpak, Talia İleri, Elif İnce, Mehmet Ertem, Zümrüt Uysal
BACKGROUND: Vincristine (VCR) is one of the main drugs of acute lymphoblastic leukemia (ALL) treatment. Azole antifungal medications are used for treatment or prophylaxis of invasive fungal infections in acute leukemia. Coadministration of these drugs increases the risk of VCR toxicity. OBSERVATIONS: We presented a girl with ALL using posaconazole prophylaxis. She developed VCR toxicity that included tubulopathy, high blood pressure, neuropathic pain, difficulty walking, diffuse muscular weakness, constipation, abdominal pain...
December 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29153147/trifecta-of-light-chain-cast-nephropathy-monoclonal-plasma-cell-infiltrates-and-light-chain-proximal-tubulopathy
#16
Abhilash Koratala, A Ahsan Ejaz, Wesley M Hiser, William L Clapp
No abstract text is available yet for this article.
December 2017: Kidney International
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#17
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29035194/clinicopathologic-characteristics-of-light-chain-proximal-tubulopathy-with-light-chain-inclusions-involving-multiple-renal-cell-types
#18
Xiaomei Li, Feng Xu, Dandan Liang, Shaoshan Liang, Xiaodong Zhu, Mingchao Zhang, Xianghua Huang, Zhihong Liu, Caihong Zeng
Light chain proximal tubulopathy (LCPT) associated with plasma cell dyscrasias is a rare abnormality, especially cases involving multiple cell types. The aim of this study is to explore the characteristics and outcomes of these diseases. We comprehensively evaluated the clinical-pathological data, treatment, and outcomes of 6 LCPT patients with involvement of multiple cell types. In 3 cases, we found that the inclusions largely existed in tubular cells, while in 2 cases they coexisted in podocytes and tubular cells, and in 1 case they coexisted in histiocytes and tubular cells...
February 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29031489/-pediatric-nephrology-what-should-an-adult-nephrologist-know-about-these-diseases
#19
Sandrine Lemoine, Pierre Cochat, Aurélia Bertholet-Thomas, Charlène Levi, Catherine Bonnefoy, Anne-Laure Sellier-Leclerc, Justine Bacchetta
In nephrology, some diseases begin specifically during childhood; however, they must be known by adult nephrologists so that to ensure continuity and homogeneity for their management. The aim of this review is therefore to propose a brief overview of the main pediatric diseases, for which a specific knowledge is warranted, and notably pediatric idiopathic nephrotic syndrome, cystinosis, primary hyperoxaluria and hereditaries tubulopathies.
December 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#20
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1, is a key phosphate transporter in the mammalian proximal tubule and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi syndrome with chronic kidney disease, and, most recently, idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
December 1, 2017: Journal of Clinical Endocrinology and Metabolism
keyword
keyword
46690
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"