{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:25:46Z","timestamp":1772166346502,"version":"3.50.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ministero della Salute"],"award-info":[{"award-number":["Ministero della Salute"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mitochondrial diseases (MDs) are systemic disorders that can affect multiple organs. Renal manifestations, including renal tubular acidosis, are common because kidneys are particularly vulnerable to energy deprivation. Treatment of MDs is often complex and electrolyte replacement can be difficult especially in pediatric patients, because large and repeated amounts of oral supplements are needed but are not well tolerated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of serum bicarbonates despite a progressive incrementation of oral bicarbonates. Furthermore, as a result to the ingestion of large amounts of alkali, the girl developed an aversion to oral supplementation. After positioning a percutaneous gastrostomy (PEG) and starting enteral administration of bicarbonates (with daily boluses and continuous nocturnal infusion), she finally obtained an adequate electrolyte control, with a significant increase in her quality of life.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved patients\u2019 quality of life, particularly in pediatric settings, where compliance to oral therapy is often lacking due to the large and repeated amounts of unpalatable bicarbonates solutions required.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13052-024-01696-9","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T10:29:59Z","timestamp":1722248999000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm"],"prefix":"10.1186","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8142-6729","authenticated-orcid":false,"given":"Arianna","family":"Traunero","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7523-3154","authenticated-orcid":false,"given":"Francesco","family":"Baldo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5099-6526","authenticated-orcid":false,"given":"Andrea","family":"Magnolato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6313-4482","authenticated-orcid":false,"given":"Grazia","family":"Di Leo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6343-846X","authenticated-orcid":false,"given":"Egidio","family":"Barbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2437-6198","authenticated-orcid":false,"given":"Irene","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,29]]},"reference":[{"issue":"2","key":"1696_CR1","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1159\/000521148","volume":"8","author":"M Parasyri","year":"2022","unstructured":"Parasyri M, Brandstr\u00f6m P, Uusimaa J. Renal phenotype in mitochondrial diseases: a Multicenter Study. Kidney Dis (Basel). 2022;8(2):148\u201359.","journal-title":"Kidney Dis (Basel)"},{"issue":"5","key":"1696_CR2","doi-asserted-by":"publisher","first-page":"487","DOI":"10.3892\/br.2017.892","volume":"6","author":"J Finsterer","year":"2017","unstructured":"Finsterer J, Scorza FA. Renal manifestations of primary mitochondrial disorders. Biomed Rep. 2017;6(5):487\u201394.","journal-title":"Biomed Rep"},{"key":"1696_CR3","unstructured":"Goldstein A, Falk MJ, Mitochondrial DNA, Deletion Syndromes. 2003 Dec 17 [Updated 2019 Jan 31]. In: Adam MP, Everman DB, Mirzaa GM, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132023."},{"key":"1696_CR4","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1007\/978-3-319-95046-4_30","volume":"1085","author":"SH Tsang","year":"2018","unstructured":"Tsang SH, Aycinena ARP, Sharma T. Mitochondrial disorder: Kearns-Sayre Syndrome. Adv Exp Med Biol. 2018;1085:161\u20132.","journal-title":"Adv Exp Med Biol"},{"issue":"4","key":"1696_CR5","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1053\/j.ackd.2018.05.006","volume":"25","author":"G Finer","year":"2018","unstructured":"Finer G, Landau D. Clinical Approach to Proximal Renal Tubular Acidosis in Children. Adv Chronic Kidney Dis. 2018;25(4):351\u20137.","journal-title":"Adv Chronic Kidney Dis"},{"issue":"2","key":"1696_CR6","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1007\/s12325-020-01587-5","volume":"38","author":"BF Palmer","year":"2021","unstructured":"Palmer BF, Kelepouris E, Clegg DJ. Renal tubular acidosis and management strategies: a narrative review. Adv Ther. 2021;38(2):949\u201368.","journal-title":"Adv Ther"},{"key":"1696_CR7","unstructured":"Senewiratne NL, Woodall A, Can AS, Sodium Bicarbonate. 2022 Sep 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan&#8211."},{"issue":"1","key":"1696_CR8","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.pcl.2018.08.011","volume":"66","author":"RT Alexander","year":"2019","unstructured":"Alexander RT, Bitzan M. Renal tubular acidosis. Pediatr Clin North Am. 2019;66(1):135\u201357.","journal-title":"Pediatr Clin North Am"},{"key":"1696_CR9","first-page":"1380","volume":"19","author":"S Parikh","year":"2017","unstructured":"Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19:1380.","journal-title":"Genet Med"},{"issue":"1","key":"1696_CR10","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1111\/imj.15505","volume":"52","author":"CM Sue","year":"2022","unstructured":"Sue CM, Balasubramaniam S, Bratkovic D. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Intern Med J. 2022;52(1):110\u201320.","journal-title":"Intern Med J"},{"issue":"24","key":"1696_CR11","doi-asserted-by":"publisher","first-page":"7739","DOI":"10.3748\/wjg.v20.i24.7739","volume":"20","author":"AA Rahnemai-Azar","year":"2014","unstructured":"Rahnemai-Azar AA, Rahnemaiazar AA, Naghshizadian R. Percutaneous endoscopic gastrostomy: indications, technique, complications and management. World J Gastroenterol. 2014;20(24):7739\u201351.","journal-title":"World J Gastroenterol"},{"issue":"8","key":"1696_CR12","first-page":"529","volume":"106","author":"AJ Lucendo","year":"2014","unstructured":"Lucendo AJ, Friginal-Ruiz AB. Percutaneous endoscopic gastrostomy: an update on its indications, management, complications, and care. Rev Esp Enferm Dig. 2014;106(8):529\u201339.","journal-title":"Rev Esp Enferm Dig"}],"container-title":["Italian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-024-01696-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13052-024-01696-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-024-01696-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T10:30:41Z","timestamp":1722249041000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijponline.biomedcentral.com\/articles\/10.1186\/s13052-024-01696-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,29]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1696"],"URL":"https:\/\/doi.org\/10.1186\/s13052-024-01696-9","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-2752799\/v1","asserted-by":"object"}]},"ISSN":["1824-7288"],"issn-type":[{"value":"1824-7288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,29]]},"assertion":[{"value":"4 April 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.All experimental protocols were approved by the IRCCS Burlo Garofolo ethics committee.Written consent was obtained from the parents of patients under 16 years old.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written consent was obtained from parents for participants under 18 years old. Written consent was obtained for the publication of potentially identifying images and clinical details.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Arianna Traunero declares that she has no conflict of interest. Francesco Baldo declares that he has no conflict of interest. Andrea Magnolato declares that he has no conflict of interest. Grazia Di Leo declares that she has no conflict of interest. Egidio Barbi declares that he has no conflict of interest. Irene Bruno declares that she has no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"132"}}