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

Published on Sep 1, 2021in Journal of Medical Genetics4.943
· DOI :10.1136/JMEDGENET-2020-107192
Mareike Dahmer-Heath1
Estimated H-index: 1
(Boston Children's Hospital),
Valentin Schriever1
Estimated H-index: 1
+ 10 AuthorsJens König16
Estimated H-index: 16
(Boston Children's Hospital)
Sources
Abstract
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 diseases are sparse. Here we provide a systematic survey on olfaction in a large cohort of patients displaying genetically determined renal ciliopathies. Methods We performed a match-controlled systematic olfactory evaluation in a group of 75 patients with a defined genetic background using age adapted and validated odour identification tests. Results Test results revealed a significant olfactory deficit in patients carrying TMEM67 variants (n=4), while all other genetic disorders causing nephronophthisis (n=25) or polycystic kidney disease (n=18) were not associated with an impaired sense of smell. Also in patients with BBS, olfactory performance was depending on the underlying molecular defect. While defects in the BBS1 gene (n=9) had no impact on the sense of smell, all other BBS gene disorders (n=19) were associated with significant hyposmia. Noteworthy, there was no correlation of the olfactory deficit with the level of renal impairment. Conclusion Hyposmia is a part of the clinical spectrum of BBS and of other renal ciliopathies. Depending on the genetic background, clinicians should be aware of this subtle and so far underappreciated symptom when clinically assessing patients with BBS or TMEM67 gene variants.
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#1M. Ludivina Robles-Osorio (Autonomous University of Queretaro)H-Index: 1
#2Rebeca Corona (UNAM: National Autonomous University of Mexico)H-Index: 8
Last. Ernesto Sabath (Autonomous University of Queretaro)H-Index: 4
view all 4 authors...
Resumen Las alteraciones en el sentido del olfato (disosmia, anosmia, hiposmia) son frecuentes en los pacientes con enfermedad renal cronica; sin embargo, hasta el momento actual las causas, consecuencias y tratamiento de estas alteraciones han sido poco abordadas. Los pacientes con enfermedad renal cronica sin tratamiento de dialisis muestran disminucion en la percepcion olfativa y existe controversia sobre si estas alteraciones se corrigen con la dialisis. El grado de percepcion olfativa es si...
1 CitationsSource
#1M. Ludivina Robles-Osorio (Autonomous University of Queretaro)H-Index: 1
#2Rebeca Corona (UNAM: National Autonomous University of Mexico)H-Index: 8
Last. Ernesto Sabath (Autonomous University of Queretaro)H-Index: 4
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Abstract Alterations in the sense of smell (dysosmia, anosmia, hyposmia) are frequently experienced by patients with chronic kidney disease. However, currently, the aetiology and consequences are poorly understood, with no effective treatments available to address such impairment. In general, the capacity of olfactory perception is affected in patients with chronic kidney disease (even in those who have not undergone dialysis therapy), and whether these alterations improve after dialysis is disp...
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Last. Stefanos Triaridis (A.U.Th.: Aristotle University of Thessaloniki)H-Index: 20
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Introduction Olfactory dysfunction may be present in patients with nasal obstruction and septal deviation. The impact of olfactory dysfunction on the psychological profile and quality of life (QoL) of these patients remains unexplored. Objective The present study aimed to investigate the emotional status and QoL of patients with olfactory dysfunction and septal deviation and to identify predictors associated with clinically significant improvement of psychological status and QoL, focusing mainly...
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The aim of this study is to investigate the effect of olfactory dysfunction (OD) on the two other chemical senses, namely gustation and the intranasal trigeminal system. Taste and trigeminal function were analyzed in a retrospective cross-sectional study of 178 participants with OD (n = 78 posttraumatic, n = 42 idiopathic, n = 27 post-infectious and n = 31 chronic rhinosinusitis (CRS) OD). All patients had been investigated for OD at our smell and taste outpatient clinic. Evaluation of olfaction...
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#1Janine Gellrich (TUD: Dresden University of Technology)H-Index: 4
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Abstract Objective Although previous studies have demonstrated the feasibility and validity of olfactory testing in children and adolescents using the “Sniffin’ Sticks” odor threshold and “U-Sniff” odor identification test, normative data obtained in a large sample for these tests are missing. Aim of this study was therefore to obtain normative data of healthy children and adolescents for olfactory assessment. Material and methods Olfactory testing was conducted using the “Sniffin’ Sticks” olfac...
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ABSTRACT Bardet–Beidl syndrome (BBS) manifests from genetic mutations encoding for one or more BBS proteins. BBS4 loss impacts olfactory ciliation and odor detection, yet the cellular mechanisms remain unclear. Here, we report that Bbs4 -/− mice exhibit shorter and fewer olfactory sensory neuron (OSN) cilia despite retaining odorant receptor localization. Within Bbs4 −/− OSN cilia, we observed asynchronous rates of IFT-A/B particle movements, indicating miscoordination in IFT complex trafficking...
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#1Cedric Uytingco (UF: University of Florida)H-Index: 7
#2Warren W. Green (UF: University of Florida)H-Index: 5
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BACKGROUND: Ciliopathies are a class of inherited pleiotropic genetic disorders in which alterations in cilia assembly, maintenance, and/or function exhibit penetrance in the multiple organ systems. Olfactory dysfunction is one such clinical manifestation that has been shown in both patients and model organisms. Existing therapies for ciliopathies are limited to the treatment or management of symptoms. The last decade has seen an increase in potential curative therapeutic options including small...
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: The olfactory and trigeminal systems are intimately connected as most odorants stimulate both sensory systems. They interact by mutually suppressing and enhancing each other. However, the location and the degree of their interaction remain unclear. One method to test sensitivity in the trigeminal system is the odor localization task: when an odorant is presented to one nostril, we are able to localize the stimulated nostril only if the odorant stimulates the trigeminal nerve. Our objective was...
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#1Valentin A. Schriever (TUD: Dresden University of Technology)H-Index: 14
#2Eduardo Agosin (UC: Pontifical Catholic University of Chile)H-Index: 49
Last. Thomas Hummel (TUD: Dresden University of Technology)H-Index: 109
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Objective To assess olfactory function in children and to create and validate an odor identification test to diagnose olfactory dysfunction in children, which we called the Universal Sniff (U-Sniff) test. Study design This is a multicenter study involving 19 countries. The U-Sniff test was developed in 3 phases including 1760 children age 5-7 years. Phase 1: identification of potentially recognizable odors; phase 2: selection of odorants for the odor identification test; and phase 3: evaluation ...
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#1María Luisa Delgado-Losada (Complutense University of Madrid)H-Index: 6
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The Sniffin’ Sticks Olfactory Identification Test is a tool for measurement of olfactory performance developed in Germany and validated in several countries. This research aims to develop the Spanish version of the Sniffin’ Sticks Olfactory Identification Test and obtain normative values for the Spanish population. The parameters are free recall and subjective intensity of odorants are included. The influence of possible demographic covariates such as sex, age, smoking, or educational level are ...
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