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Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
Mol Genet Genomic Med
February 2021
Medical Genetics, University Hospital of Parma, Parma, Italy.
Background: Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X-linked ATS) and in two autosomal genes, COL4A4 and COL4A3, responsible of both recessive ATS and, when present in heterozygosity, of a spectrum of phenotypes ranging from isolated hematuria to frank renal disease.
Methods: Retrospective analysis of the clinical and genetic features of 76 patients from 34 unrelated ATS families (11 with mutations in COL4A5, 11 in COL4A3, and 12 in COL4A4) and genotype/phenotype correlation for the COL4A3/COL4A4 heterozygotes (34 patients from 14 families).
Results: Eight (24%) of the 34 heterozygous COL4A3 and COL4A4 carriers developed renal failure at a mean age of 57 years, with a significantly lower risk than hemizygous COL4A5 or double heterozygous COL4A3/COL4A4 carriers (p < 0.
Alport's Syndrome: A Rare Clinical Presentation with Crescents.
Indian J Nephrol
February 2020
Department of Nephrology, Aditya Birla Memorial Hospital, Pune, Maharashtra, India.
Alport's syndrome (hereditary nephritis) is a familial disorder, which usually affects young males with clinical presentation of hematuric and glomerular disease. We report a rare case of Alport's syndrome in a 16-year-old male with typical extrarenal manifestations and renal biopsy findings with crescents.
View Article and Find Full Text PDFAutosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.
Croat Med J
October 2019
Tamara Nikuševa Martić, Šalata 3, 10000 Zagreb, Croatia,
Alport syndrome (AS) is a genetically heterogenic, structural disorder of the glomerular basement membrane (GBM) due to the mutation of COL4A3, COL4A4, or COL4A5 genes, which clinically presents as progressive hematuric nephritis with ultrastructural changes of the GBM, high tone sensorineural hearing loss, and ocular lesions. About 15% of AS cases have autosomal mutations of COL4A3 and COL4A4 genes, including homozygous and compound heterozygous mutations. Here, we present a case of a two-year-old boy with autosomal recessive Alport syndrome (ARAS) caused by a novel c.
View Article and Find Full Text PDFA COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome.
Curr Mol Med
November 2021
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Background: Alport syndrome (AS) is an inherited familial nephropathy, characterized by progressive hematuric nephritis, bilateral sensorineural hypoacusis and ocular abnormalities. X-linked AS (XLAS) is the major AS form and is clinically heterogeneous, and it is associated with defects in the collagen type IV alpha 5 chain gene (COL4A5).
Objective: The purpose of this research is to detect the genetic defect responsible for renal disorder in a 3-generation Han-Chinese pedigree.
Treatment of breast cancer in a patient of Alport syndrome-induced chronic renal failure: A triumph story.
J Cancer Res Ther
August 2018
Department of Medical and Pediatric Oncology, Gujarat Cancer Research Institute, Gujarat, Ahmedabad, India.
Alport syndrome is a hereditary disease of the glomerular basement membrane, characterized by the familial occurrence of progressive, hematuric nephropathy with sensorineural deafness. We are reporting here a young adult female, suffering from Alport syndrome with significant family history and on maintenance twice-weekly hemodialysis (HD), had been diagnosed with triple negative earlystage right-sided breast cancer. The patient was managed successfully with surgery and adjuvant chemotherapy with 3 cycles of 5-flurouracil, doxorubicin, and cyclophosphamide and 3 cycles of docetaxel.
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