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Genetic kidney disease

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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28718268/oxymorphone-induced-thrombotic-microangiopathy-mimicking-atypical-haemolytic-uremic-syndrome
#2
Amibhen Gandhi, Saad Ullah, Shani Kotadia, Samer Nasser
Atypical Haemolytic Uremic Syndrome (aHUS) is a rare life threatening entity characterized by thrombocytopenia, haemolytic anaemia and renal dysfunction. It is a thrombotic microangiopathy related to genetic mutations in the alternate complement pathway and has a distinct pathophysiology which makes it harder to distinguish from other microangiopathies. We present a case of a 25-year-old male patient with history of polysubstance abuse who presented with chest pain and dyspnoea. He admitted to using injectable oxymorphone (Opana) two weeks before presentation...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28716159/bilateral-wilms-tumour-a-review-of-clinical-and-molecular-features
#3
Jocelyn Charlton, Sabine Irtan, Christophe Bergeron, Kathy Pritchard-Jones
Wilms tumour (WT) is the most common paediatric kidney cancer and affects approximately one in 10 000 children. The tumour is associated with undifferentiated embryonic lesions called nephrogenic rests (NRs) or, when diffuse, nephroblastomatosis. WT or NRs can occur in both kidneys, termed bilateral disease, found in only 5-8% of cases. Management of bilateral WT presents a major clinical challenge in terms of maximising survival, preserving renal function and understanding underlying genetic risk. In this review, we compile clinical data from 545 published cases of bilateral WT and discuss recent progress in understanding the molecular basis of bilateral WT and its associated precursor NRs in the context of the latest radiological, surgical and epidemiological features...
July 18, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#4
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28710492/nek1-kinase-domain-structure-and-its-dynamic-protein-interactome-after-exposure-to-cisplatin
#5
Talita D Melo-Hanchuk, Priscila Ferreira Slepicka, Gabriela Vaz Meirelles, Fernanda Luisa Basei, Diogo Ventura Lovato, Daniela Campos Granato, Bianca Alves Pauletti, Romenia Ramos Domingues, Adriana Franco Paes Leme, Alessandra Luiza Pelegrini, Guido Lenz, Stefan Knapp, Jonathan M Elkins, Jörg Kobarg
NEK family kinases are serine/threonine kinases that have been functionally implicated in the regulation of the disjunction of the centrosome, the assembly of the mitotic spindle, the function of the primary cilium and the DNA damage response. NEK1 shows pleiotropic functions and has been found to be mutated in cancer cells, ciliopathies such as the polycystic kidney disease, as well as in the genetic diseases short-rib thoracic dysplasia, Mohr-syndrome and amyotrophic lateral sclerosis. NEK1 is essential for the ionizing radiation DNA damage response and priming of the ATR kinase and of Rad54 through phosphorylation...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704812/sglt1-deficiency-turns-listeria-infection-into-a-lethal-disease-in-mice
#6
Piyush Sharma, Vishal Khairnar, Ivana Vrhovac Madunić, Yogesh Singh, Aleksandra Pandyra, Madhuri S Salker, Hermann Koepsell, Ivan Sabolić, Florian Lang, Philipp A Lang, Karl S Lang
BACKGROUND: Cellular glucose uptake may involve either non-concentrative glucose carriers of the GLUT family or Na+-coupled glucose-carrier SGLT1, which accumulates glucose against glucose gradients and may thus accomplish cellular glucose uptake even at dramatically decreased extracellular glucose concentrations. SGLT1 is not only expressed in epithelia but as well in tumour cells and immune cells. Immune cell functions strongly depend on their metabolism, therefore we hypothesized that deficiency of SGLT1 modulates the defence against bacterial infection...
July 14, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28701203/discovery-of-a-novel-dominant-mutation-in-the-ren-gene-after-forty-years-of-renal-disease-a-case-report
#7
Rhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, Kim Brugger, Stephen Abbs, Coralie Bingham, Charles Shaw-Smith
BACKGROUND: Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease. CASE PRESENTATION: A 57 year old Caucasian woman with chronic kidney disease stage five was reviewed in a regional joint renal genetics clinic...
July 12, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28696355/abcc6-and-pseudoxanthoma-elasticum-the-face-of-a-rare-disease-from-genetics-to-advocacy
#8
REVIEW
Karobi Moitra, Sonia Garcia, Michelle Jaldin, Clementine Etoundi, Donna Cooper, Anna Roland, Patrice Dixon, Sandra Reyes, Sevilay Turan, Sharon Terry, Michael Dean
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high phenotypic variability, which may possibly be affected by several modifier genes. Disease advocacy organizations have had a pivotal role in bringing rare disease research to the forefront and in helping to sustain research funding for rare genetic diseases in order to help find a treatment for these diseases, pseudoxanthoma elasticum included...
July 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28696253/the-ox40-ox40-ligand-pathway-promotes-pathogenic-th-cell-responses-plasmablast-accumulation-and-lupus-nephritis-in-nzb-w-f1-mice
#9
Jonathan Sitrin, Eric Suto, Arthur Wuster, Jeffrey Eastham-Anderson, Jeong M Kim, Cary D Austin, Wyne P Lee, Timothy W Behrens
Ox40 ligand (Ox40L) locus genetic variants are associated with the risk for systemic lupus erythematosus (SLE); however, it is unclear how Ox40L contributes to SLE pathogenesis. In this study, we evaluated the contribution of Ox40L and its cognate receptor, Ox40, using in vivo agonist and antagonist approaches in the NZB × NZW (NZB/W) F1 mouse model of SLE. Ox40 was highly expressed on several CD4 Th cell subsets in the spleen and kidney of diseased mice, and expression correlated with disease severity. Treatment of aged NZB/W F1 mice with agonist anti-Ox40 mAbs potently exacerbated renal disease, which was accompanied by activation of kidney-infiltrating T cells and cytokine production...
July 10, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28696248/intracellular-apol1-risk-variants-cause-cytotoxicity-accompanied-by-energy-depletion
#10
Daniel Granado, Daria Müller, Vanessa Krausel, Etty Kruzel-Davila, Christian Schuberth, Melanie Eschborn, Roland Wedlich-Söldner, Karl Skorecki, Hermann Pavenstädt, Ulf Michgehl, Thomas Weide
Population genetic approaches have uncovered a strong association between kidney diseases and two sequence variants of the APOL1 gene, called APOL1 risk variant G1 and variant G2, compared with the nonrisk G0 allele. However, the mechanism whereby these variants lead to disease manifestation and, in particular, whether this involves an intracellular or extracellular pool of APOL1 remains unclear. Herein, we show a predominantly intracellular localization of APOL1 G0 and the renal risk variants, which localized to membranes of the endoplasmic reticulum in podocyte cell lines...
July 10, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28693455/fainting-fanconi-syndrome-clarified-by-proxy-a-case-report
#11
Stephen Benedict Walsh, Robert Unwin, Robert Kleta, William Van't Hoff, Paul Bass, Khalid Hussain, Sian Ellard, Detlef Bockenhauer
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. CASE PRESENTATION: We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy...
July 11, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28687614/signal-integration-at-the-pi3k-p85-xbp1-hub-endows-coagulation-protease-activated-protein-c-with-insulin-like-function
#12
Thati Madhusudhan, Hongjie Wang, Sanchita Ghosh, Wei Dong, Varun Kumar, Moh'd Mohanad Al-Dabet, Jayakumar Manoharan, Sumra Nazir, Ahmed Elwakiel, Fabian Bock, Shrey Kohli, Andi Marquardt, Ibrahim Sögüt, Khurrum Shahzad, Andreas J Müller, Charles T Esmon, Peter P Nawroth, Jochen Reiser, Triantafyllos Chavakis, Wolfram Ruf, Berend Isermann
Coagulation proteases have increasingly recognized functions beyond hemostasis and thrombosis. Disruption of activated protein C (aPC) or insulin signaling both impair function of podocytes and ultimately cause dysfunction of the glomerular filtration barrier and diabetic kidney disease (DKD). We here show that insulin and aPC converge on a common spliced-X-box binding protein-1 (sXBP1) signaling pathway to maintain endoplasmic reticulum (ER)-homeostasis. Analogous to insulin, physiological levels of aPC maintain endoplasmic reticulum (ER) proteostasis in DKD...
July 7, 2017: Blood
https://www.readbyqxmd.com/read/28687574/successful-treatment-of-recurrent-primitive-myxoid-mesenchymal-tumor-of-infancy-with-bcor-internal-tandem-duplication
#13
Stuart L Cramer, Rong Li, Siraj Ali, Julie A Bradley, Hee K Kim, Joseph G Pressey
Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a rare tumor with <20 cases reported to date. Recently PMMTI tumors have been found to harbor BCOR internal tandem duplication (ITD), the same genetic alteration detected in clear cell sarcoma of the kidney (CCSK). Complete surgical resection of PMMTI is often curative, but no standard of care has been established for unresectable tumors. We describe a female patient who presented at 13 months of age with a paraspinal mass and spinal cord compression...
July 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28685176/the-hormetic-functions-of-wnt-pathways-in-tubular-injury
#14
REVIEW
Elisabeth F Gröne, Giuseppina Federico, Peter J Nelson, Bernd Arnold, Hermann-Josef Gröne
Chronic tubulointerstitial damage with tubular epithelial atrophy and interstitial fibrosis is the hallmark of chronic kidney disease (CKD) and a predictor for progression of CKD.Several experiments have now provided evidence that the Wnt signaling pathways are significantly contributing to atrophy and fibrosis; in contrast, it also has been shown that the Wnt system fosters regenerative processes in acute tubular injury.We now have demonstrated that Dickkopf 3 (DKK3) is an agonist for canonical Wnt signaling in CKD and fosters chronic fibrosing inflammation of the tubulointerstitial compartment...
July 6, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28685101/end-stage-kidney-failure-in-oman-an-analysis-of-registry-data-with-an-emphasis-on-congenital-and-inherited-renal-diseases
#15
Intisar Al Alawi, Issa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John A Sayer
Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes and inherited kidney disease. All newly registered Omani patients with ESKD commencing RRT from 2001 until 2015 (n = 2,922) were analysed using the RRT register in Oman. All potentially genetic or inherited causes of ESKD were reviewed. In Oman, ESKD is more prevalent in males (57...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28680821/a-unified-pathogenesis-for-kidney-diseases-including-genetic-diseases-and-cancers-by-the-protein-homeostasis-system-hypothesis
#16
REVIEW
Kyung-Yil Lee
Every cell of an organism is separated and protected by a cell membrane. It is proposed that harmony between intercellular communication and the health of an organism is controlled by a system, designated the protein-homeostasis-system (PHS). Kidneys consist of a variety of types of renal cells, each with its own characteristic cell-receptor interactions and producing characteristic proteins. A functional union of these renal cells can be determined by various renal function tests, and harmonious intercellular communication is essential for the healthy state of the host...
June 2017: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/28679364/understanding-barriers-to-medication-dietary-and-lifestyle-treatments-prescribed-in-polycystic-kidney-disease
#17
Wen-Ching Tran, David Huynh, Tea Chan, Catherine A Chesla, Meyeon Park
BACKGROUND: Autosomal dominant polycystic kidney disease (PKD) is the most common genetic renal disease and the fourth leading cause of end-stage renal disease in the United States. Although there is no cure for PKD, several treatments are considered to be beneficial, including blood pressure control, exercise, low-salt diet, and high volume water intake. However, levels of understanding of the importance of these treatments and adherence to these recommendations vary among patients. This study explores illness perception models of patients with PKD to reveal barriers in adherence to prescribed therapies; satisfaction with medical care; and sources of medical information...
July 5, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28678923/cardiac-amyloidosis-and-its-new-clinical-phenotype-heart-failure-with-preserved-ejection-fraction
#18
Evandro Tinoco Mesquita, Antonio José Lagoeiro Jorge, Celso Vale Souza, Thais Ribeiro de Andrade
Heart failure with preserved ejection fraction (HFpEF) is now an emerging cardiovascular epidemic, being identified as the main phenotype observed in clinical practice. It is more associated with female gender, advanced age and comorbidities such as hypertension, diabetes, obesity and chronic kidney disease. Amyloidosis is a clinical disorder characterized by the deposition of aggregates of insoluble fibrils originating from proteins that exhibit anomalous folding. Recently, pictures of senile amyloidosis have been described in patients with HFpEF, demonstrating the need for clinical cardiologists to investigate this etiology in suspect cases...
June 29, 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28678867/gut-bacterial-peptides-with-autoimmunity-potential-as-environmental-trigger-for-late-onset-complex-diseases-in-silico-study
#19
Sapna Negi, Harpreet Singh, Anirban Mukhopadhyay
Recent evidences suggest that human gut microbiota with major component as bacteria can induce immunity. It is also known that gut lining depletes with ageing and that there is increased risk of autoimmune and inflammatory disorders with ageing. It is therefore likely that both may be correlated as depletion of gut lining exposes the gut bacterial antigens to host immune mechanisms, which may induce immunity to certain bacterial proteins, but at the same time such immunity may also be auto-immunogenic to host...
2017: PloS One
https://www.readbyqxmd.com/read/28677361/change-gout-the-need-for-a-new-approach
#20
Leonardo Punzi
Gout is the most common form of inflammatory arthropathy and is caused by an excess of uric acid in the blood (hyperuricemia). It is a chronic, debilitating condition that gradually increases in severity and affects an increasing number of people. It has a wide spectrum of clinical manifestations and is related to serious kidney and cardiovascular conditions and to an increased risk of mortality. The negative perception of the disease, historically seen as related to a life of dissipation, has led to underestimating its impact and focusing the attention on the short-term treatment of acute attacks rather than on the long-term management of the condition without, consequently, preventing the most serious complications...
August 2017: Minerva Medica
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