Literature DB >> 8153075

[Systemic karyomegaly with chronic interstitial nephritis. Discussion of the disease picture based on an autopsy case].

H Moch1, M Spöndlin, A Schmassmann, M J Mihatsch.   

Abstract

Systemic karyomegaly associated with interstitial nephritis was first described in 1978 by Mihatsch. Seven cases have been reported to date. We give an account of an autopsy case of systemic karyomegaly in a 30-year-old Italian man. Bizarre enlargement of nuclei was found in renal tubular epithelial cells, Schwann cells and in smooth muscle cells of vessels and bowel and, less obviously, in endothelial and adventitial cells of vessels, in alveolar epithelial cells and in astrocytes of the brain. These findings were associated with chronic interstitial nephritis, nonspecific hepatopathy, adenocarcinoma of the rectum and multiple sclerosis. The clinical course was marked by chronic renal failure, chronic haemodialysis and renal transplantation. The patient died 8 years after diagnosis in septic-toxic shock. The aetiology and pathogenesis of the disease are discussed.

Entities:  

Mesh:

Year:  1994        PMID: 8153075     DOI: 10.1007/s002920050024

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  6 in total

Review 1.  [Clinical autopsies in Switzerland : A status report].

Authors:  A-K Rodewald; P Bode; G Cathomas; H Moch
Journal:  Pathologe       Date:  2017-09       Impact factor: 1.011

2.  [Eulogy to Prof. Dr. Med. Michael J. Mihatsch : Presentation of the Rudolf Virchow Medal 2019 of the German Society of Pathology].

Authors:  H Moch
Journal:  Pathologe       Date:  2019-12       Impact factor: 1.011

Review 3.  Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.

Authors:  Amanda B Spurdle; Michael A Bowman; Jannah Shamsani; Judy Kirk
Journal:  Mod Pathol       Date:  2017-04-28       Impact factor: 7.842

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

Authors:  Weibin Zhou; Edgar A Otto; Andrew Cluckey; Rannar Airik; Toby W Hurd; Moumita Chaki; Katrina Diaz; Francis P Lach; Geoffrey R Bennett; Heon Yung Gee; Amiya K Ghosh; Sivakumar Natarajan; Supawat Thongthip; Uma Veturi; Susan J Allen; Sabine Janssen; Gokul Ramaswami; Joanne Dixon; Felix Burkhalter; Martin Spoendlin; Holger Moch; Michael J Mihatsch; Jerome Verine; Richard Reade; Hany Soliman; Michel Godin; Denes Kiss; Guido Monga; Gianna Mazzucco; Kerstin Amann; Ferruh Artunc; Ronald C Newland; Thorsten Wiech; Stefan Zschiedrich; Tobias B Huber; Andreas Friedl; Gisela G Slaats; Jaap A Joles; Roel Goldschmeding; Joseph Washburn; Rachel H Giles; Shawn Levy; Agata Smogorzewska; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2012-07-08       Impact factor: 38.330

Review 5.  FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.

Authors:  Amit L Deshmukh; Antonio Porro; Mohiuddin Mohiuddin; Stella Lanni; Gagan B Panigrahi; Marie-Christine Caron; Jean-Yves Masson; Alessandro A Sartori; Christopher E Pearson
Journal:  J Huntingtons Dis       Date:  2021

Review 6.  Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature.

Authors:  Pierre Isnard; Marion Rabant; Jacques Labaye; Corinne Antignac; Bertrand Knebelmann; Mohamad Zaidan
Journal:  Medicine (Baltimore)       Date:  2016-05       Impact factor: 1.889

  6 in total

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