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It affects multiple organs, including the kidney and liver, with varying degrees regarding extent and time of first manifestation. Structural renal anomalies are an early feature and end-stage kidney disease (ESKD) cumulates to 25% in adulthood. Early-onset hyperphagia-associated obesity is another major symptom and contributes to liver pathology, presenting as steatosis\/fibrosis. Aim of this study is the evaluation of high-end ultrasound (US) technologies in BBS patients regarding their potential to discriminate liver and kidney tissue pathology at an early stage.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and methods<\/jats:title>\n                    <jats:p>Patients with genetically proven BBS were recruited from the University Children\u2019s Hospital of Essen and from BBS patient days hosted in Germany. Acute illness was an exclusion criterion. Clinical and laboratory data were extracted from patients\u2019 digital records or medical letters. High-resolution ultrasound (US) imaging was utilized, including attenuation imaging (ATI), shear wave elastography (SWE) and dispersion (SWD) of liver tissue.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      49 BBS patients (24\/49 male; 1.1\u201351.0\u00a0years, mean 17.8\u00a0years) were included in the study. Mean body weight (SDS 2.13\u2009\u00b1\u20091.33) and BMI (SDS 2.64\u2009\u00b1\u20091.18) were increased. Structural kidney abnormalities (dysplasia, cysts) were present in 75% (36\/48), and persistent fetal lobulation in 44% (21\/48). Renal function was impaired in 27% (13\/49) of whom 3 had ESKD (kidney transplantation (n\u2009=\u20092), hemodialysis (n\u2009=\u20091)). Elevation of liver enzymes was detected in 38% (16\/42). In 51% (25\/49) ATI of liver tissue was increased, indicating hepatic steatosis, and correlated with BMI SDS, liver size, and enzymes. SWE was elevated in 61% (30\/49), suggesting hepatic fibrosis, and it correlated with BMI and GGT. Patients with pathogenic variants in\n                      <jats:italic>BBS10<\/jats:italic>\n                      showed a tendency towards higher ATI, reduced GFR, and higher BMI SDS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We detected kidney and liver abnormalities in a higher percentage of BBS patients than previously reported, indicating a high sensitivity and diagnostic yield of the evaluated high-end US applications. ATI detected liver pathology early (partially prior to liver enzymes) and revealed differences related to the affected genes. Evidence of tissue pathology at an early stage may improve diagnostics and the evaluation of therapeutic approaches.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03400-w","type":"journal-article","created":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T04:18:32Z","timestamp":1731385112000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Ultrasound evaluation of kidney and liver involvement in Bardet\u2013Biedl syndrome"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0918-9204","authenticated-orcid":false,"given":"Metin","family":"Cetiner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilja","family":"Finkelberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Schiepek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Pape","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Hirtz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja K.","family":"B\u00fcscher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,12]]},"reference":[{"issue":"2","key":"3400_CR1","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1136\/jmg.34.2.92","volume":"34","author":"PL Beales","year":"1997","unstructured":"Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. 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MC also received payments for lectures from Canon Medical Systems. LP received payments for lectures and expert testimony from Rhythm Pharmaceuticals. The other authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"425"}}