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Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules

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cris.virtual.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
cris.virtual.author-orcid0000-0001-8310-5921
cris.virtual.author-orcid0000-0001-7220-1803
cris.virtualsource.author-orcid7c901d1e-8059-4242-a0f8-81800c45154e
cris.virtualsource.author-orcid4934f3bd-c359-4f1f-95b3-01e691b8f76f
cris.virtualsource.author-orcidd6d8f048-2c79-4a35-bcb0-42bf10f7f9fc
dc.contributor.authorFaller, Nicolas
dc.contributor.authorDhayat, Nasser
dc.contributor.authorFuster, Daniel Guido
dc.date.accessioned2024-10-07T16:38:58Z
dc.date.available2024-10-07T16:38:58Z
dc.date.issued2019-02
dc.description.abstractTwin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. The spectrum ranges from infrequent but highly penetrant variants (mutations) causing mendelian forms of nephrolithiasis (monogenic traits) to common but phenotypically mild variants associated with nephrolithiasis (polygenic traits). About two-thirds of the genes currently known to be associated with nephrolithiasis code for membrane proteins or enzymes involved in renal tubular transport. The thick ascending limb of Henle and connecting tubules are of paramount importance for renal water and electrolyte handling, urinary concentration and maintenance of acid-base homeostasis. In most instances, pathogenic variants in genes involved in thick ascending limb of Henle and connecting tubule function result in phenotypically severe disease, frequently accompanied by nephrocalcinosis with progressive CKD and to a variable degree by nephrolithiasis. The aim of this article is to review the current knowledge on kidney stone disease associated with inherited defects in the thick ascending loop of Henle and the connecting tubules. We also highlight recent advances in the field of kidney stone genetics that have implications beyond rare disease, offering new insights into the most common type of kidney stone disease, i.e., idiopathic calcium stone disease.
dc.description.numberOfPages14
dc.description.sponsorshipUniversitätsklinik für Nephrologie und Hypertonie
dc.identifier.doi10.7892/boris.121666
dc.identifier.pmid30460527
dc.identifier.publisherDOI10.1007/s00240-018-1097-z
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/60895
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofUrolithiasis
dc.relation.issn2194-7236
dc.relation.organizationDCD5A442BB17E17DE0405C82790C4DE2
dc.relation.organizationDCD5A442C268E17DE0405C82790C4DE2
dc.subjectKidney stone · Nephrocalcinosis · dRTA · Bartter · FHHNC · Thick ascending limb of Henle · Connecting tubule
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.titleNephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules
dc.typearticle
dspace.entity.typePublication
dspace.file.typetext
dspace.file.typetext
oaire.citation.endPage56
oaire.citation.issue1
oaire.citation.startPage43
oaire.citation.volume47
oairecerif.author.affiliationUniversitätsklinik für Nephrologie und Hypertonie
oairecerif.author.affiliationUniversitätsklinik für Nephrologie und Hypertonie
oairecerif.author.affiliationUniversitätsklinik für Nephrologie und Hypertonie
oairecerif.author.affiliation2#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation2Department for BioMedical Research, Forschungsgruppe Nephrologie / Hypertonie
oairecerif.author.affiliation2Lehrkörper, Medizinische Fakultät
oairecerif.author.affiliation3#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation3#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation3Department for BioMedical Research, Forschungsgruppe Nephrologie / Hypertonie
oairecerif.author.affiliation4#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation4#PLACEHOLDER_PARENT_METADATA_VALUE#
oairecerif.author.affiliation4#PLACEHOLDER_PARENT_METADATA_VALUE#
unibe.contributor.rolecreator
unibe.contributor.rolecreator
unibe.contributor.rolecreator
unibe.date.embargoChanged2022-11-21 23:25:04
unibe.date.licenseChanged2019-10-23 06:20:47
unibe.description.ispublishedpub
unibe.eprints.legacyId121666
unibe.refereedTRUE
unibe.subtype.articlereview

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