Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Ciochirca-Rath, M.
A CASE REPORT OF A PATIENT PRESENTING WITH ACUTE RENAL FAILURE SUFFERING FROM THE RARE HISTIOCYTIC NEOPLASM OF ERDHEIM-CHESTER DISEASE.
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2020. pp. 53
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Ehrlich Georg
- Hutterer Georg
- Altmetrics:
- Abstract:
- OBJECTIVE The aim of this work is on the one hand to add information to the scarce literature on the topic of Erdheim-Chester disease, a rare multisystemic disease, a non-Langerhans cell histiocytosis with multiorgan involvement, declared a histiocytic neoplasm by the World Health Organization in 2016, particulary in connection with renal involvement (70 PubMed entries), and on the other hand, to find out whether the presence of particular symptoms might be indicative of the diagnosis of this rare disease or not. METHODS A retrospective data assessment of a 60-year-old male patient presenting with acute renal failure, suffering from the rare histiocytic neoplasm of Erdheim-Chester disease at the Department of Urology at the Medical University of Graz – including medical history, diagnoses, laboratory data and therapy plans retrieved from electronic patient records - from 2010 to 2018, were included into this case report. At the same time, a systematic literature review was conducted, mainly consisting of ‘PubMed’ and ‘Google Scholar’, as well as at the University Library of the Medical University of Graz. RESULTS The rare case of a 60-year-old male patient suffering from untreated polydipsia and polyuria for 5 years before presenting with bilateral hydronephrosis and acute renal failure at the Department of Urology of the Medical University of Graz, is reported. Importantly, the respective patient underwent a resection of a small, rightsided neck tumor as early as November 2010 at the Department of Dermatology of the Medical University of Graz, which was histologically diagnosed as a potential Langerhans-cell histiocytosis. The patient continued to be clinically asymptomatic until the development of diabetes insipidus in August 2012, as well as several skeletal and multiple extraskeletal manifestations. Nevertheless, it took more than another 6 years until the diagnosis of Erdheim-Chester disease was confirmed histologically, as well as genetically, thanks to the surgical removal of multiple rightsided ureteral biopsies in April 2018, and thus the patient was able to consecutively receive state-of-the-art medical treatment with a selective BRAF-inhibitor. CONCLUSION Despite its rarity, Erdheim-Chester disease represents an important (differential) diagnosis that can be associated with numerous and often unspecific symptoms, e.g. bone pain, fever, night sweats and fatigue. For a correct diagnosis of this rare disease it is paramount that all available patient evaluations, examinations and results are documented in a meticulous fashion and are made accessible for all interdisciplinary medical experts involved in the treatment of a patient, in order to be able to timely start state-of-the-art medical treatment whenever necessary.