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Tubulopathy

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https://www.readbyqxmd.com/read/29345400/fludrocortisone-a-treatment-for-tubulopathy-post-paediatric-renal-transplantation-a-national-paediatric-nephrology-unit-experience
#1
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
#2
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/29309806/decreased-expression-of-megalin-and-cubilin-and-altered-mitochondrial-activity-in-tenofovir-nephrotoxicity
#3
Alexandre Cez, Isabelle Brocheriou, François-Xavier Lescure, Clovis Adam, Pierre-Marie Girard, Gilles Pialoux, Søren K Moestrup, Soraya Fellahi, Jean-Philippe Bastard, Pierre Ronco, Emmanuelle Plaisier
Tenofovir disoproxil fumarate (TDF) is a commonly used antiretroviral drug for HIV, rarely causing Fanconi syndrome and acute kidney injury. We retrospectively analyzed the clinico-pathological presentation of 20 cases of tenofovir-induced tubulopathy, and investigated the renal expression of the megalin and cubilin proteins, as well as the mitochondrial respiratory chain activity. Estimated glomerular filtration rate (eGFR) before TDF exposure was 92 ml/min/1,73m2, decreasing to 27.5 ml/min/1,73m2 at the time of biopsy, with 30% of patients requiring renal replacement therapy...
January 5, 2018: Human Pathology
https://www.readbyqxmd.com/read/29300302/splicing-analysis-of-exonic-ocrl-mutations-causing-lowe-syndrome-or-dent-2-disease
#4
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
#5
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
#6
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...
December 13, 2017: 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
#7
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
#8
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
#9
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%C3%A2
#10
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...
October 16, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29031489/-pediatric%C3%A2-nephrology-what%C3%A2-should-an%C3%A2-adult%C3%A2-nephrologist-know-about%C3%A2-these%C3%A2-diseases
#11
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.
October 11, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#12
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's syndrome with chronic kidney disease, and most recently, with 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...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29028660/cumulative-exposure-of-tenofovir-disoproxil-fumarate-is-associated-with-kidney-tubulopathy-whether-it-is-currently-used-or-discontinued-in-hiv-infected-patients
#13
Takeshi Nishijima, Yoshikazu Mutoh, Yohei Kawasaki, Kiyomi Tomonari, Yoshimi Kikuchi, Hiroyuki Gatanaga, Shinichi Oka
OBJECTIVE: TDF increases the risk of kidney tubular dysfunction (KTD). This study was conducted to elucidate whether KTD persists after discontinuation of TDF. DESIGN: A prospective cross-sectional study which enrolled 941 HIV-1-infected patients. METHODS: KTD was predefined as the presence of at least two abnormalities among the five tubular markers (fractional excretion of phosphate, fractional excretion of uric acid, β2-microglobulinuria, N-acetyl-β-D-glucosaminidase, non-diabetic glycosuria)...
October 12, 2017: AIDS
https://www.readbyqxmd.com/read/28993158/high-potency-block-of-kir4-1-channels-by-pentamidine-molecular-basis
#14
Iván A Aréchiga-Figueroa, Leticia G Marmolejo-Murillo, Meng Cui, Mayra Delgado-Ramírez, Marcel A G van der Heyden, José A Sánchez-Chapula, Aldo A Rodríguez-Menchaca
Inward rectifier potassium (Kir) channels are expressed in almost all mammalian tissues and contribute to a wide range of physiological processes. Kir4.1 channel expression is found in the brain, inner ear, eye, and kidney. Loss-of-function mutations in the pore-forming Kir4.1 subunit cause an autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and tubulopathy (SeSAME/EST syndrome). Despite its importance in physiological and pathological conditions, pharmacological research of Kir4...
October 6, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28954837/clinical-laboratory-and-molecular-findings-and-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg-phosphomannomutase-2-congenital-disorder-of-glycosylation-and-review-of-the-literature
#15
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients...
September 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28950840/diagnostic-challenge-in-a-patient-with-nephropathic-juvenile-cystinosis-a-case-report
#16
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito
BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan. Most cystinosis is the nephropathic infantile form, as indicated by its apparent and severe clinical manifestations, including renal and ocular symptoms. Patients with the nephropathic juvenile form account for 5% of those with cystinosis...
September 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28937064/nephrocalcinosis-among-children-at-king-hussein-medical-center-causes-and-outcome
#17
Jwaher T Al-Bderat, Reham I Mardinie, Ghazi M Salaita, Amer T Al-Bderat, Mahdi K Farrah
Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up. Thirty-five (55.5%) cases were males and 28 (44.5%) were females. The median (range) age at presentation was four (2-192) months...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28898114/diagnostic-challenges-of-kidney-diseases-in-hiv-infected-patients
#18
Robin Chazot, Elisabeth Botelho-Nevers, Anne Frésard, Nicolas Maillard, Christophe Mariat, Frédéric Lucht, Amandine Gagneux-Brunon
Chronic kidney disease (CKD) is a prevalent comorbidity in persons living with HIV infection (PLWH) associated with an increase in cardiovascular morbidity and all-cause mortality. Furthermore, early diagnosis of CKD is difficult in PLWH. Areas covered: We reviewed the main diagnostic tools for CKD in PLWH, and discussed their strengths and limits. We performed a literature search on PubMed to identify reviews and clinical trials dealing with attractive kidney biomarkers of CKD in PLWH, with the following key words: 'HIV AND kidney', 'HIV AND Kidney biomarkers', 'CKD AND Kidney biomarkers'...
October 2017: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#19
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28868291/rare-renal-diseases-can-be-used-as-tools-to-investigate-common-kidney-disorders
#20
REVIEW
Mariadelina Simeoni, Sara Damiano, Giovanna Capolongo, Francesco Trepiccione, Miriam Zacchia, Giorgio Fuiano, Giovambattista Capasso
BACKGROUND: The prevention and slowing of chronic kidney disease still represent major challenges in nephrology. To this end, a major contribution may come from the extensive knowledge on the molecular pathways involved in the pathogenesis of rare kidney diseases, since it is now possible to shed light on several aspects of these pathologies thanks to the introduction of new technologies, including next-generation sequencing. SUMMARY: In steroid-resistant nephrotic patients, a genetic background has been demonstrated in both children and adults; individualized mutations have been correlated with glomerular filtration barrier alterations...
July 2017: Kidney Diseases
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