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Our purpose was to examine associations of genotype and phenotype in children with NPHP-RC and analyze the transplantation strategies of different phenotypes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The records of children with NPHP treated at our center from 01\/2018 to 03\/2021 were retrospectively reviewed. Inclusion criteria were a diagnosis of NPHP, received kidney transplantation, and received whole exome sequencing (WES) or nephropathy gene panel testing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Twenty-nine children with NPHP were included. Nine children (31%) had <jats:italic>NPHP1<\/jats:italic> mutations, and all presented with isolated nephropathy. Eighteen of 20 patients with non-<jats:italic>NPHP1<\/jats:italic> mutations had compound heterozygous mutations, and 70% had extrarenal phenotype. Age at disease presentation (11.2\u2009\u00b1\u20091.94\u00a0years) and the development of kidney failure (12.4\u2009\u00b1\u20092.70\u00a0years) were later in children with <jats:italic>NPHP1<\/jats:italic> mutations than those with non-<jats:italic>NPHP1<\/jats:italic> mutations (5.2\u2009\u00b1\u20092.83\u00a0years and 5.7\u2009\u00b1\u20092.92\u00a0years, respectively). Four of six children with <jats:italic>NPHP3<\/jats:italic> mutations were diagnosed with Boichis syndrome due to liver fibrosis. Isolated kidney transplantation resulted in good outcomes for patients with mild or moderate liver fibrosis without portal hypertension, while cholestasis was common postoperatively and could be resolved with ursodeoxycholic acid.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p><jats:italic>NPHP1<\/jats:italic> mutations are the most common in children with NPHP, and the phenotype of <jats:italic>NPHP1<\/jats:italic> mutation is significantly different from that of <jats:italic>non-NPHP1<\/jats:italic> mutation. For NPHP patients with mild to moderate liver fibrosis without portal hypertension, timely treatment of cholestasis could prevent the rapid progression of liver function damage after isolated kidney transplantation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Graphical abstract<\/jats:title>\n                \n              <\/jats:sec>","DOI":"10.1007\/s00467-022-05763-3","type":"journal-article","created":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T10:02:39Z","timestamp":1665655359000},"page":"1609-1620","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP"],"prefix":"10.1007","volume":"38","author":[{"given":"Jianyi","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojun","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huanxi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenrui","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianming","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanxu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenglin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuhui","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Longshan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,10,13]]},"reference":[{"key":"5763_CR1","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1111\/nep.13393","volume":"23","author":"F Luo","year":"2018","unstructured":"Luo F, Tao YH (2018) Nephronophthisis: a review of genotype-phenotype correlation. 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