{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:45:20Z","timestamp":1789728320034,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T00:00:00Z","timestamp":1537747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Severe urea cycle defects (UCD), organic acidemias (OA) and maple syrup urine disease (MSUD) are life\u2010threatening disorders presenting in the first days of life. Renal replacement therapy (RRT) is an emergency option in affected newborns, mostly performed as ultima ratio. We report our 10\u2010year experience using emergency RRT in newborns with UCD, OA and MSUD. Twelve newborns (eight with UCD, two with methylmalonic acidemia and two with MSUD) underwent emergency RRT. The overall survival rate to RRT was 58.3%. Hyperammonemic newborns required earlier RRT with respect to MSUD patients (75 (65\u2013102) <jats:italic>vs<\/jats:italic> 301 (192\u2013410) h of life, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01). Hyperammonemic neonates surviving (<jats:italic>n<\/jats:italic>\u2009=\u20095) and non\u2010surviving (<jats:italic>n<\/jats:italic>\u2009=\u20095) the acute neonatal decompensation showed similar birth weight (<jats:italic>P<\/jats:italic>\u2009=\u20090.690), duration of intubation (<jats:italic>P<\/jats:italic>\u2009=\u20090.917), ammonia at onset (<jats:italic>P<\/jats:italic>\u2009=\u20090.916) and at the start of RRT (<jats:italic>P<\/jats:italic>\u2009=\u20090.426), age at RRT (<jats:italic>P<\/jats:italic>\u2009=\u20090.999) and duration of coma before RRT (<jats:italic>P<\/jats:italic>\u2009=\u20090.691). Remarkably, all survivors quickly responded to RRT, with ammonia concentration less than 300\u2009\u03bcmol\/L after 8\u2009h of treatment. One patient with UCD successfully treated by neonatal RRT died at 4\u2009months of life because of sepsis. All patients with MSUD had normalized leucine levels after 12\u2009h of RRT, surviving the acute neonatal decompenstation. All long\u2010term survivors (five liver transplanted, one waiting for liver transplantation) currently show normal or near\u2010normal neurological development (48\u2009\u00b1\u200939\u2009months of age). Early response to RRT was associated with survival irrespective of pre\u2010treatment picture. RRT can be considered even in huge neonatal metabolic decompensations. Early liver transplantation may be an option for select patients.<\/jats:p>","DOI":"10.1111\/nep.13409","type":"journal-article","created":{"date-parts":[[2018,6,11]],"date-time":"2018-06-11T06:01:34Z","timestamp":1528696894000},"page":"957-961","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Differential response to renal replacement therapy in neonatal\u2010onset inborn errors of metabolism"],"prefix":"10.1111","volume":"23","author":[{"given":"Francesco","family":"Porta","sequence":"first","affiliation":[{"name":"Departments of Pediatrics Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Licia","family":"Peruzzi","sequence":"additional","affiliation":[{"name":"Departments of Nephrology Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Bonaudo","sequence":"additional","affiliation":[{"name":"Departments of Nephrology Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Pieretti","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Busso","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Cocchi","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Conio","sequence":"additional","affiliation":[{"name":"Departments of Anesthesia and Intensive Care Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Pagliardini","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Spada","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Dialysis and Transplantation Unit, Citt\u00e0 della Salute e della Scienza, Regina Margherita Children's Hospital  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,24]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"25","volume-title":"Pediatric Endocrinology and Inborn Errors of Metabolism","author":"Mussa A","year":"2017"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198406073102304"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072492"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2004.tb03050.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80085-2"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0157-4"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2008.05.007"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31815eead6"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1542\/peds.68.6.856","article-title":"Outcome of early and long\u2010term management of classical maple syrup urine disease","volume":"68","author":"Clow CL","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-2945-x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01320216"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670100702"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9901-1"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1347-z"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9938-9"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-0175"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.08.022"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.13409","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.13409","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.13409","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.13409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T19:01:41Z","timestamp":1694286101000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.13409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,24]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["10.1111\/nep.13409"],"URL":"https:\/\/doi.org\/10.1111\/nep.13409","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,24]]},"assertion":[{"value":"2018-05-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}