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https://www.readbyqxmd.com/read/29885104/glycated-albumin-is-a-more-useful-glycation-index-than-hba1c-for-reflecting-renal-tubulopathy-in-subjects-with-early-diabetic-kidney-disease
#1
Ji Hye Huh, Minyoung Lee, So Young Park, Jae Hyeon Kim, Byung Wan Lee
BACKGROUND: The aim of this study was to investigate which glycemic parameters better reflect urinary N-acetyl-β-D-glucosaminidase (uNAG) abnormality, a marker for renal tubulopathy, in subjects with type 2 diabetes mellitus (T2DM) subjects with normoalbuminuria and a normal estimated glomerular filtration rate (eGFR). METHODS: We classified 1,061 participants with T2DM into two groups according to uNAG level-normal vs. high (>5.8 U/g creatinine)-and measured their biochemical parameters...
May 2, 2018: Diabetes & Metabolism Journal
https://www.readbyqxmd.com/read/29884802/chloroquine-and-amodiaquine-enhance-ampk-phosphorylation-and-improve-mitochondrial-fragmentation-in-diabetic-tubulopathy
#2
Hye Yun Jeong, Jun Mo Kang, Hak Hoon Jun, Dong-Jin Kim, Seon Hwa Park, Min Ji Sung, Jin Hyung Heo, Dong Ho Yang, Sang Ho Lee, So-Young Lee
We investigated the effects of chloroquine (CQ) and amodiaquine (AQ) on AMPK phosphorylation in renal tubular cells in a diabetic environment in vivo and in vitro. We also examined whether CQ- or AQ-mediated AMPK activity restoration attenuated diabetic tubulopathy by normalizing mitochondrial fragmentation. Human renal proximal epithelial cells (HKC8) were incubated in high-glucose conditions. Diabetes was induced with streptozotocin in male C57/BL6J mice. Treatment with CQ or AQ abolished high-glucose-induced phospho-AMPK and phosph-PGC1α down-regulation in HKC8 cells...
June 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29875423/aminoacyl-trna-synthetase-deficiencies-in-search-of-common-themes
#3
Sabine A Fuchs, Imre F Schene, Gautam Kok, Jurriaan M Jansen, Peter G J Nikkels, Koen L I van Gassen, Suzanne W J Terheggen-Lagro, Saskia N van der Crabben, Sanne E Hoeks, Laetitia E M Niers, Nicole I Wolf, Maaike C de Vries, David A Koolen, Roderick H J Houwen, Margot F Mulder, Peter M van Hasselt
PURPOSE: Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clinical care. METHODS: Symptoms were analyzed in all patients with recessive ARS deficiencies reported in literature, supplemented with unreported patients evaluated in our hospital...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29871958/gitelman-syndrome-and-primary-hyperparathyroidism-a-rare-association
#4
Teresa Rego, Fernando Fonseca, Rita Cerqueira, Ana Agapito
Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare.A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. She presented with fatigue, myalgias, cramps and paraesthesia. Her physical examination was normal. Laboratory workup revealed: K+ 2.7 mEq/L (r...
June 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29862969/relevance-of-urinary-specific-protein-assay-in-the-diagnosis-of-kidney-diseases
#5
Adrien Flahault, Jean-François Chassé, Eric Thervet, Alexandre Karras, Nicolas Pallet
The analysis of urinary protein composition is an important step in the evaluation and monitoring of kidney diseases. Among the various approaches, the determination of urinary-specific proteins makes it possible to non-invasively detect a preferentially tubular or glomerular injury, to orientate towards a pathological process, to guide the indication of a kidney biopsy, and to follow the evolution of the disease and the effectiveness of a therapy. No study systematically evaluated the performance of urinary-specific proteins for the diagnosis of a renal disease...
June 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29861568/amyloid-proximal-tubulopathy-and-amyloid-casts-an-unusual-finding-in-multiple-myeloma
#6
A A Kurien, M E Fernando
Patients with multiple myeloma (MM) often develop renal manifestations. The majority of cases present as cast nephropathy, amyloid light-chain (AL) amyloidosis, and monoclonal immunoglobulin deposition disease. AL amyloidosis usually involves the glomeruli, blood vessels, and interstitium. It is extremely uncommon to find isolated intratubular deposition of AL amyloid. Our patient presented with rapid worsening of renal function due to isolated intratubular deposition of AL amyloid, where the biopsy revealed amyloid proximal tubulopathy and amyloid cast nephropathy...
March 2018: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29860512/model-of-population-pharmacokinetics-of-cidofovir-in-immunocompromised-children-with-cytomegalovirus-and-adenovirus-infection
#7
Nadège Neant, Roman Klifa, Naïm Bouazza, Despina Moshous, Benedicte Neven, Marianne Leruez-Ville, Stephane Blanche, Jean-Marc Treluyer, Deborah Hirt, Pierre Frange
Objectives: To describe cidofovir pharmacokinetics and assess the link between concentration and safety/efficacy in children. Patients and methods: An observational study was conducted in 13 immunocompromised children receiving cidofovir for adenovirus and/or cytomegalovirus infection. A population pharmacokinetic model was built and AUC0-24 was derived for each patient. Virological success was defined as a decrease of the viraemia by ≥1 log10 copies/mL within 15 days of cidofovir initiation...
June 1, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29849040/congenital-chloride-diarrhea-needs-to-be-distinguished-from-bartter-and-gitelman-syndrome
#8
Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, Azusa Kawaguchi, Naoya Fujita, Naoya Morisada, Shingo Ishimori, Tomohiko Yamamura, Shogo Minamikawa, Tomoko Horinouchi, Keita Nakanishi, Junya Fujimura, Takeshi Ninchoji, Ichiro Morioka, Hiroaki Nagase, Mariko Taniguchi-Ikeda, Hiroshi Kaito, Kazumoto Iijima
Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD)...
May 30, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29806685/-nephropatic-cystinosis-report-of-one-case
#9
Paola Krall, Daniela Nualart, Jean Grandy
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi's syndrome was diagnosed...
January 2018: Revista Médica de Chile
https://www.readbyqxmd.com/read/29786180/-bartter-syndrome-severe-rare-orphan-kidney-disease-a-step-towards-therapy-through-pharmacogenetic-and-epidemiological-studies
#10
EDITORIAL
Elena Conte, Paola Imbrici, Dalila Sahbani, Antonella Liantonio, Diana Conte
Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29756720/a-novel-mutation-of-dent-s-disease-in-an-11-year-old-male-with-nephrolithiasis-and-nephrocalcinosis
#11
Ozlem Sancakli, Bahar Kulu, Onur Sakallioglu
Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29744055/bile-cast-nephropathy-in-a-patient-with-cholangiocarcinoma-a-case-report
#12
Kittrawee Kritmetapak, Thanatarn Sathidatekoonchorn, Weerapat Papanrueng
Bile cast nephropathy is characterized by the presence of bile casts associated with renal failure and/or proximal tubulopathy in cases of severe hyperbilirubinemia. The clinician should carefully examine the urine samples for characteristic bile-stained granular casts in suspected case.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29722015/east-sesame-syndrome-review-of-the-literature-and-introduction-of-four-new-latvian-patients
#13
REVIEW
C Marta, M Ieva, I Inna, A Mareta, K Sandra, J Pereca, S Janis, P Dita, S Jurgis
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations in at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29703839/the-complexity-and-heterogeneity-of-monoclonal-immunoglobulin-associated-renal-diseases
#14
Sanjeev Sethi, S Vincent Rajkumar, Vivette D D'Agati
Monoclonal gammopathies are characterized by the overproduction of monoclonal Ig (MIg) detectable in the serum or urine resulting from a clonal proliferation of plasma cells or B lymphocytes. The underlying hematologic conditions range from malignant neoplasms of plasma cells or B lymphocytes, including multiple myeloma and B-cell lymphoproliferative disorders, to nonmalignant small clonal proliferations. The term MGUS implies presence of an MIg in the setting of a "benign" hematologic condition without renal or other end organ damage...
April 27, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29666984/unusual-white-matter-involvement-in-east-syndrome-associated-with-novel-kcnj10-mutations
#15
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...
June 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29617471/hypophosphatemic-rickets-case-report
#16
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
#17
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
#18
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
#19
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
#20
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
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