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alports syndrome

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https://www.readbyqxmd.com/read/28916834/ultrastructural-characterization-of-the-glomerulopathy-in-alport-mice-by-helium-ion-scanning-microscopy-him
#1
Kenji Tsuji, Hani Suleiman, Jeffrey H Miner, James M Daley, Diane E Capen, Teodor G Păunescu, Hua A Jenny Lu
The glomerulus exercises its filtration barrier function by establishing a complex filtration apparatus consisting of podocyte foot processes, glomerular basement membrane and endothelial cells. Disruption of any component of the glomerular filtration barrier leads to glomerular dysfunction, frequently manifested as proteinuria. Ultrastructural studies of the glomerulus by transmission electron microscopy (TEM) and conventional scanning electron microscopy (SEM) have been routinely used to identify and classify various glomerular diseases...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28905837/en-face-optical-coherence-tomography-findings-in-a-case-of-alport-syndrome
#2
In Hwan Cho, Hoon Dong Kim, Sang Joon Jung, Tae Kwann Park
Alport syndrome is a rare hereditary disease that is associated with retinal abnormalities such as dot-and-fleck retinopathy and temporal macular thinning. The main pathophysiological process of Alport syndrome is loss of the collagen network in the basement membrane. However, the alterations in each retinal layer have not been fully evaluated. In the case presented here, we evaluated the retina of a patient with Alport syndrome using en face optical coherence tomography (OCT). The findings suggested that the primary alterations occur in the internal limiting membrane and the retinal pigment epithelium basement membrane which is a part of the Bruch's membrane...
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28898339/-young-woman-daughter-of-a-father-with-alport%C3%A2-s-syndrome-debuts-with-a-impure-nephrotic-syndrome
#3
Fernando González, Gonzalo Méndez, Daniela Navarrete, Emilio Roessler B
No abstract text is available yet for this article.
May 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28884028/spontaneous-coronary-artery-dissection-a-rare-manifestation-of-alport-syndrome
#4
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28881511/-role-of-igg-antibody-to-galactose-deficient-iga1-in-children-with-iga-nephropathy
#5
N Zhou, H Zhang, X R Liu, Q Sun, Q Meng, Z Chen, Y Shen
Objective: In order to learn the serum level of galactose-deficient IgA1 (GdIgA1), IgG antibody to galactose-deficient IgA1(GdIgA1-IgG) and the clinical role of them in IgA nephropathy(IgAN) children. Method: We compared blood levels of GdIgA1, GdIgA1-IgG in 33 children with IgAN, 38 children with other renal disease (including focal segmental glomerular nephritis, minimal change disease, Alport syndrome and thin basement membrane nephropathy) as disease controls, 35 healthy children as normal controls with enzyme-linked immunosorbent assay(ELISA)...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28873450/bromide-supplementation-exacerbated-the-renal-dysfunction-injury-and-fibrosis-in-a-mouse-model-of-alport-syndrome
#6
Tsubasa Yokota, Kohei Omachi, Mary Ann Suico, Haruka Kojima, Misato Kamura, Keisuke Teramoto, Shota Kaseda, Jun Kuwazuru, Tsuyoshi Shuto, Hirofumi Kai
A seminal study recently demonstrated that bromide (Br-) has a critical function in the assembly of type IV collagen in basement membrane (BM), and suggested that Br- supplementation has therapeutic potential for BM diseases. Because salts of bromide (KBr and NaBr) have been used as antiepileptic drugs for several decades, repositioning of Br- for BM diseases is probable. However, the effects of Br- on glomerular basement membrane (GBM) disease such as Alport syndrome (AS) and its impact on the kidney are still unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28864840/renal-auricular-and-ocular-outcomes-of-alport-syndrome-and-their-current-management
#7
Yanqin Zhang, Jie Ding
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin-angiotensin-aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria...
September 1, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28856578/a-case-of-mild-phenotype-alport-syndrome-caused-by-col4a3-mutations
#8
Masafumi Kamijo, Mineaki Kitamura, Kumiko Muta, Tadashi Uramatsu, Yoko Obata, Kandai Nozu, Hiroshi Kaito, Kazumoto Iijima, Hiroshi Mukae, Tomoya Nishino
In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the α5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV collagen α3 chain. These two gene mutations represented a new pattern of mutation and was suggested the association with an atypical α5 chain expression and mild phenotype...
August 30, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28844315/massively-parallel-sequencing-and-targeted-exomes-in-familial-kidney-disease-can-diagnose-underlying-genetic-disorders
#9
Andrew J Mallett, Hugh J McCarthy, Gladys Ho, Katherine Holman, Elizabeth Farnsworth, Chirag Patel, Jeffery T Fletcher, Amali Mallawaarachchi, Catherine Quinlan, Bruce Bennetts, Stephen I Alexander
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease...
August 23, 2017: Kidney International
https://www.readbyqxmd.com/read/28843411/the-activin-receptor-is-stimulated-in-the-skeleton-vasculature-heart-and-kidney-during-chronic-kidney-disease
#10
Matthew J Williams, Toshifumi Sugatani, Olga A Agapova, Yifu Fang, Joseph P Gaut, Marie-Claude Faugere, Hartmut H Malluche, Keith A Hruska
We examined activin receptor type IIA (ActRIIA) activation in chronic kidney disease (CKD) by signal analysis and inhibition in mice with Alport syndrome using the ActRIIA ligand trap RAP-011 initiated in 75-day-old Alport mice. At 200 days of age, there was severe CKD and associated Mineral and Bone Disorder (CKD-MBD), consisting of osteodystrophy, vascular calcification, cardiac hypertrophy, hyperphosphatemia, hyperparathyroidism, elevated FGF23, and reduced klotho. The CKD-induced bone resorption and osteoblast dysfunction was reversed, and bone formation was increased by RAP-011...
August 23, 2017: Kidney International
https://www.readbyqxmd.com/read/28827396/genetic-diagnosis-of-polycystic-kidney-disease-alport-syndrome-and-thalassemia-minor-in-a-large-chinese-family
#11
Yun Miao, Jun Xiong, Xuelian Zhang, Huajie Huang, Lixin Yu, Jianfan Chen, Wenfeng Deng, Huiling Xu, Rumin Liu, Chenglin Xiang, Xiangmin Xu, Fu Xiong
Background : Polycystic kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence in south China. Here, we report an exceptional PKD coincidence of thalassemia minor and AS (diagnosed genetically) in a large Chinese family. Methods : Whole genome next-generation sequencing (NGS) was performed on the proband and all family members underwent clinical evaluations. Sanger sequencing was used to validate the mutations distinguished by NGS...
August 21, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28791351/altered-gene-expression-profile-in-a-rat-model-of-gentamicin-induced-ototoxicity-and-nephrotoxicity-and-the-potential-role-of-upregulated-ifi44-expression
#12
Jun-Gen Hu, Yu Fu, Jian-Ju Xu, Xian-Ping Ding, Hui-Qi Xie, Jesse Li-Ling
As demonstrated by Alport syndrome, the co‑occurrence of auditory and urinary system malformations, and gentamicin-induced ototoxicity and nephrotoxicity, the ears and kidneys potentially share certain molecular pathways. In the present study, microarray chips were used to analyze the changes in the gene expression profile using a rat model of gentamicin‑induced ototoxicity and nephrotoxicity, using rat liver tissue as a control. A number of genes were identified to exhibit similar expression changes in the rat ears and kidney tissues, among which microtubule‑associated protein 44 (Ifi44), was selected for further analysis to validate its expression changes and confirm potential involvement in the inflammation process in the disease model...
October 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28780565/clinical-genetic-testing-using-a-custom-designed-steroid-resistant-nephrotic-syndrome-gene-panel-analysis-and-recommendations
#13
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs). METHODS: This study reports results of 302 patients referred for SRNS diagnostic gene panel analysis...
August 5, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754557/accelerated-podocyte-detachment-and-progressive%C3%A2-podocyte-loss-from-glomeruli-with%C3%A2-age%C3%A2-in-alport-syndrome
#14
Fangrui Ding, Larysa Wickman, Su Q Wang, Yanqin Zhang, Fang Wang, Farsad Afshinnia, Jeffrey Hodgin, Jie Ding, Roger C Wiggins
Podocyte depletion is a common mechanism driving progression in glomerular diseases. Alport Syndrome glomerulopathy, caused by defective α3α4α5 (IV) collagen heterotrimer production by podocytes, is associated with an increased rate of podocyte detachment detectable in urine and reduced glomerular podocyte number suggesting that defective podocyte adherence to the glomerular basement membrane might play a role in driving progression. Here a genetically phenotyped Alport Syndrome cohort of 95 individuals [urine study] and 41 archived biopsies [biopsy study] were used to test this hypothesis...
July 26, 2017: Kidney International
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#15
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/28704582/autosomal-dominant-form-of-type-iv-collagen-nephropathy-exists-among-patients-with-hereditary-nephritis-difficult-to-diagnose-clinicopathologically
#16
Aya Imafuku, Kandai Nozu, Naoki Sawa, Eiko Hasegawa, Rikako Hiramatsu, Masahiro Kawada, Junichi Hoshino, Kiho Tanaka, Yasuo Ishii, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Kazumoto Iijima, Yoshifumi Ubara
AIM: Type IV collagen nephropathies include Alport Syndrome and thin basement membrane nephropathy (TBMN), which are caused by mutations in COL4A3/A4/A5 genes. Recently, the report of patients with heterozygous mutations in COL4A3/A4 have been increasing. The clinical course of these patients has a wide variety, and they are diagnosed as TBMN, autosomal dominant Alport syndrome (ADAS), or familial focal segmental glomerular sclerosis. However, diagnosis, frequency and clinicopathological manifestation of them remains unclear...
July 13, 2017: Nephrology
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
#17
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
#18
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/28674241/mutation-analysis-of-col4a3-and-col4a4-genes-in-a-chinese-autosomal-dominant-alport-syndrome-family
#19
Liwei Guo, Duan Li, Shuangshuang Dong, Donghao Wan, Baosheng Yang, Yanmei Huang
Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family.Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatched controls and the sequence of COL4A3 and COL4A4 genes from GenBank...
June 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28658201/targeted-next-generation-sequencing-in-brazilian-children-with-nephrotic-syndrome-submitted-to-renal-transplant
#20
Luciana S Feltran, Patricia Varela, Elton D Silva, Camila L Veronez, Maria C Franco, Alvaro P Filho, Maria F Camargo, Paulo C Koch Nogueira, Joao B Pesquero
BACKGROUND: The aims of this study were to identify the genetic mutations profile in Brazilian children with nephrotic syndrome and to determine a genotype-phenotype correlation in this disease. METHODS: Next generation sequencing (NGS) and mutation analysis were performed on 24 genes related to nephrotic syndrome in a cross-sectional study involving 95 children who underwent kidney transplantation due to nephrotic syndrome, excluding congenital cases. RESULTS: A total of 149 variants were identified in 22 out of 24 sequenced genes...
June 28, 2017: Transplantation
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