{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T03:14:17Z","timestamp":1740107657897,"version":"3.37.3"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003062","name":"Erciyes University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003062","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6-month-old girl, previously diagnosed with cystic fibrosis (CF), was admitted to hospital for nephrolithiasis. Her parents were first-degree cousins. The patient underwent endoscopic stone management. Despite no family history of stones and medical treatment with potassium citrate, the patient developed recurrent renal stones and atypical urinary tract infections during follow-up. Basic investigations were all normal. Due to consanguinity and early presentation of nephrolithiasis, metabolic causes such as cystinuria and hyperoxaluria were considered. Cystinuria was excluded due to normal cystine levels. High urinary oxalate excretion was found as expected due to absorptive (secondary) hyperoxaluria in CF patients. An early stone burden in the patient with a history of medical treatment and consanguinity led us to perform a genetic testing. Genetic testing revealed a missense homozygous variant in exon 1 of the <jats:italic>AGXT<\/jats:italic> gene. The patient was diagnosed with primary hyperoxaluria type 1. Two rare life-threatening genetic diseases were found together in the same child.<\/jats:p>","DOI":"10.1007\/s00467-024-06433-2","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T12:01:47Z","timestamp":1719316907000},"page":"3467-3469","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent symptomatic urolithiasis in a patient with cystic fibrosis"],"prefix":"10.1007","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8946-0481","authenticated-orcid":false,"given":"Sibel","family":"Yel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0191-4344","authenticated-orcid":false,"given":"Ismail","family":"Dursun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3003-918X","authenticated-orcid":false,"given":"Mehmet","family":"K\u00f6se","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7317-2717","authenticated-orcid":false,"given":"Asl\u0131han","family":"Kiraz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5142-8432","authenticated-orcid":false,"given":"Muammer Hakan","family":"Poyrazoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":false,"given":"Munis","family":"D\u00fcndar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"6433_CR1","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1038\/s41581-021-00513-4","volume":"18","author":"P Singh","year":"2022","unstructured":"Singh P, Harris PC, Sas DJ, Lieske JC (2022) The genetics of kidney stone disease and nephrocalcinosis. Nat Rev Nephrol 18:224\u2013240","journal-title":"Nat Rev Nephrol"},{"key":"6433_CR2","first-page":"278","volume":"14","author":"N Esfandiar","year":"2020","unstructured":"Esfandiar N, Khanbabaee G, Riazi Kermani K (2020) Urinary system and renal \u0131nvolvement in children with cystic fibrosis. Iran J Kidney Dis 14:278\u2013281","journal-title":"Iran J Kidney Dis"},{"key":"6433_CR3","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1681\/ASN.2016030279","volume":"28","author":"F Knauf","year":"2017","unstructured":"Knauf F, Thomson RB, Heneghan JF, Jiang Z, Adebamiro A, Thomson CL, Barone C, Asplin JR, Egan ME, Alper SL, Aronson PS (2017) Loss of cystic fibrosis transmembrane regulator \u0131mpairs \u0131ntestinal oxalate secretion. J Am Soc Nephrol 28:242\u2013249","journal-title":"J Am Soc Nephrol"},{"key":"6433_CR4","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1053\/j.ajkd.2005.06.003","volume":"46","author":"B Hoppe","year":"2005","unstructured":"Hoppe B, von Unruh GE, Blank G, Rietschel E, Sidhu H, Laube N, Hesse A (2005) Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosis. Am J Kidney Dis 46:440\u2013445","journal-title":"Am J Kidney Dis"},{"key":"6433_CR5","doi-asserted-by":"publisher","first-page":"1052625","DOI":"10.3389\/fped.2022.1052625","volume":"10","author":"X Gang","year":"2023","unstructured":"Gang X, Liu F, Mao J (2023) Lumasiran for primary hyperoxaluria type 1: what we have learned? Front Pediatr 10:1052625","journal-title":"Front Pediatr"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-024-06433-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-024-06433-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-024-06433-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T11:06:47Z","timestamp":1729854407000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-024-06433-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,25]]},"references-count":5,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["6433"],"URL":"https:\/\/doi.org\/10.1007\/s00467-024-06433-2","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"type":"print","value":"0931-041X"},{"type":"electronic","value":"1432-198X"}],"subject":[],"published":{"date-parts":[[2024,6,25]]},"assertion":[{"value":"20 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 June 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was obtained from the patient\u2019s parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}