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      Karyomegalic interstitial nephritis with focal segmental glomerulosclerosis: A rare association

      case-report

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          Abstract

          Karyomegalic interstitial nephritis (KIN) is a rare form of, progressive chronic interstitial nephritis. We present a case of KIN in a child, who was also found to have nephrotic syndrome because of focal segmental glomerulosclerosis on renal biopsy. To our knowledge, this is the first case of KIN associated with glomerulopathy.

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          FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

          SUMMARY Chronic kidney disease (CKD) represents a major health burden 1 . Its central feature of renal fibrosis is not well understood. By whole exome resequencing in a model disorder for renal fibrosis, nephronophthisis (NPHP), we identified mutations of Fanconi anemia-associated nuclease 1 (FAN1) as causing karyomegalic interstitial nephritis (KIN). Renal histology of KIN is indistinguishable from NPHP except for the presence of karyomegaly 2 . FAN1 has nuclease activity, acting in DNA interstrand crosslinking (ICL) repair within the Fanconi anemia pathway of DNA damage response (DDR) 3–6 . We demonstrate that cells from individuals with FAN1 mutations exhibit sensitivity to the ICL agent mitomycin C. However, they do not exhibit chromosome breakage or cell cycle arrest after diepoxybutane treatment, unlike cells from patients with Fanconi anemia. We complement ICL sensitivity with wild type FAN1 but not mutant cDNA from individuals with KIN. Depletion of fan1 in zebrafish revealed increased DDR, apoptosis, and kidney cysts akin to NPHP. Our findings implicate susceptibility to environmental genotoxins and inadequate DNA repair as novel mechanisms of renal fibrosis and CKD.
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            Extreme dysplasia in renal epithelium of a young woman dying from hepatocarcinoma.

            K Burry (1974)
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              Systemic karyomegaly associated with chronic interstitial nephritis. A new disease entity?

              In 3 patients, two 26 and one 29 years of age, a nephropathy was accidentally discovered which progressed to end stage renal failure within 4 to 6 years. Renal biopsy revealed an unusually marked karyomegaly particularly of the tubular epithelium. These cytopathological changes were associated with chronic interstitial nephritis. Biopsies of other organs, i.e. liver, colon, bronchus and lungs indicated in 2 patients a systemic distribution of the karyomegaly, particularly in mesenchymal cells. Neither the chronic interstitial nephritis nor the karyomegaly could be ascribed to a recognized etiology. This suggests, therefore, that there is a relationship between these changes. The karyomegaly could be the result of the action of some antimitotic agent such as chemical toxins or virus infections.
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                Author and article information

                Journal
                Indian J Nephrol
                Indian J Nephrol
                IJN
                Indian Journal of Nephrology
                Medknow Publications & Media Pvt Ltd (India )
                0971-4065
                1998-3662
                Mar-Apr 2014
                : 24
                : 2
                : 117-119
                Affiliations
                [1]Department of Anatomical Pathology and Cytology, Aware Global Hospitals, L.B. Nagar, Hyderabad, Andhra Pradesh, India
                [1 ]Consultant Nephorologist, Matrix Hospitals, Ramanthapur, Hyderabad, Andhra Pradesh, India
                Author notes
                Address for correspondence: Dr. Sistla Radha, Plot No. 20, Road No. 1, Alakapuri, L.B. Nagar, Hyderabad - 500 035, Andhra Pradesh, India. E-mail: sradha_21@ 123456hotmail.com
                Article
                IJN-24-117
                10.4103/0971-4065.127905
                3968600
                24701046
                4e6cbee5-11d0-4c20-90e4-19014c3457e3
                Copyright: © Indian Journal of Nephrology

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Case Report

                Nephrology
                focal segmental glomerulosclerosis,interstitial nephritis,karyomegaly,nephrotic syndrome

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