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Article

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.

Journal of medical genetics - 1 Sept 2021

Dahmer-Heath Mareike, Schriever Valentin, Kollmann Sabine, Schleithoff Carolin, Titieni Andrea, Cetiner Metin, Patzer Ludwig, Tönshoff Burkhard, Hansen Matthias, Pennekamp Petra, Gerß Joachim, Konrad Martin, König Jens

Abstract excerpt

BACKGROUND: Hereditary cystic kidney diseases such as nephronophthisis, polycystic kidney disease and Bardet-Biedl syndrome (BBS) are caused by a dysfunction of primary cilia. Cilia are involved in a variety of cellular functions and perceptions, with one of them being the sense of smell. Hyposmia is a typical feature found in patients with BBS. However, reports of olfactory dysfunction in other cystic kidney...

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Identifiers

PMID: 32917769
DOI: 10.1136/jmedgenet-2020-107192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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