{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:12:01Z","timestamp":1790615521219,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T00:00:00Z","timestamp":1656547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cystinosis is a rare autosomal recessive disease leading to end\u2010stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing concern. Pregnancy data in patients with cystinosis were collected through an anonymized survey. We collected data for 19 pregnancies in 12 women. Seventeen patients were transplanted, 1 was on hemodialysis and 1 had chronic kidney disease (CKD) stage 4. These 19 pregnancies resulted in 13 live births (68.4%): 3 spontaneous early miscarriages, 1 ectopic pregnancy, 1 early pre\u2010eclampsia (at 21\u2009weeks), and 1 preterm birth with neonatal death at 24\u2009weeks were reported. After exclusion of early miscarriage or termination, pregnancy success rate was 86.7%. In successful pregnancies, median gestational age at delivery was 34\u2009weeks (24\u201337). Preeclampsia occurred in seven pregnancies (7\/15, 46.7%). A cesarean section was performed in all pregnancies. Median baby weight at delivery was 2175\u2009g (620\u20133374\u2009g). After pregnancy, one patient reached end\u2010stage renal disease, but she already had advanced CKD before pregnancy (creatinine 239\u2009\u03bcmol\/L, eGFR 23\u2009ml\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>). In three other patients, there was a decrease of eGFR of 8, 20, and 53\u2009ml\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>, respectively. The majority of pregnancies were successful, but severe antenatal and post\u2010natal complications may occur, in particular preeclampsia that was noticed in nearly half of patients and fetal loss in one\u2010third of them. These results may help pre\u2010pregnancy counseling and pregnancy management.<\/jats:p>","DOI":"10.1002\/jimd.12529","type":"journal-article","created":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T15:57:11Z","timestamp":1655481431000},"page":"963-968","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Pregnancy in cystinosis patients with chronic kidney disease: A European case series"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8165-8212","authenticated-orcid":false,"given":"Aude","family":"Servais","sequence":"first","affiliation":[{"name":"Nephrology and Transplantation Department, Centre de r\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l'Enfant et de l'Adulte Necker Hospital, APHP, Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian C. H.","family":"Janssen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Radboud University Medical Centre  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Blakey","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine Queen Elizabeth Hospital Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Greco","sequence":"additional","affiliation":[{"name":"Division of Nephrology Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Lemoine","sequence":"additional","affiliation":[{"name":"Nephrology and Renal Function Unit, Edouard Herriot Hospital, Hospices Civils de Lyon University of Lyon, Centre de Reference des Maladies R\u00e9nales et Phosphocalciques Rares N\u00e9prhogones  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma L.","family":"Martin\u2010Moreno","sequence":"additional","affiliation":[{"name":"Department of Nephrology Clinica Universidad de Navarra, Navarra Institute for Health Research (IdiSNA)  Pamplona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Game","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation Guy's and St Thomas\u2019 Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology University Hospitals Leuven &amp; Department of Development and Regeneration, Katholieke Universiteit Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Lipkin","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine Queen Elizabeth Hospital Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and the ERA working groups on inherited kidney diseases (WGIKD)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,30]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198807283190406"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfz047"},{"issue":"5","key":"e_1_2_11_4_1","first-page":"677","article-title":"Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever","volume":"19","author":"Haase M","year":"2006","journal-title":"J Nephrol"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1994.03520170037028"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transproceed.2011.12.071"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.277"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1993.03510180070036"},{"key":"e_1_2_11_9_1","first-page":"635","article-title":"Delayed complications of cystinosis, a review of 33 patients older than 18\u2009years","volume":"10","author":"Broyer M","year":"1995","journal-title":"Ann Pediatr (Paris)"},{"key":"e_1_2_11_10_1","first-page":"63","volume-title":"Cystinosis","author":"T\u00eate MJ","year":"1999"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-4-200708210-00006"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199809\/10)58:3\/4<96::AID-TERA5>3.0.CO;2-7"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199809\/10)58:3\/4<88::AID-TERA4>3.0.CO;2-5"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.01.033"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transproceed.2018.12.026"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000002404"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.02980707"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.06170612"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ackd.2007.01.004"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008121241"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-019-1213-5"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfu208"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9389-2"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951110000053"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12529","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12529","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12529","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T23:24:50Z","timestamp":1692660290000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,30]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/jimd.12529"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12529","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,30]]},"assertion":[{"value":"2022-02-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}