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renal tubulopathies

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https://www.readbyqxmd.com/read/29786180/-bartter-syndrome-severe-rare-orphan-kidney-disease-a-step-towards-therapy-through-pharmacogenetic-and-epidemiological-studies
#1
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
#2
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
#3
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/29703839/the-complexity-and-heterogeneity-of-monoclonal-immunoglobulin-associated-renal-diseases
#4
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/29606257/-ifosphamide-nephrotoxicity
#5
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/29497325/the-importance-of-the-thick-ascending-limb-of-henle-s-loop-in-renal-physiology-and-pathophysiology
#6
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
#7
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
#8
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
#9
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/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/29300302/splicing-analysis-of-exonic-ocrl-mutations-causing-lowe-syndrome-or-dent-2-disease
#11
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
#12
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
#13
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/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#14
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
#15
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/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#16
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
https://www.readbyqxmd.com/read/28950840/diagnostic-challenge-in-a-patient-with-nephropathic-juvenile-cystinosis-a-case-report
#17
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
#18
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/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 SLC 12 A 3 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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