{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:52:09Z","timestamp":1753887129313,"version":"3.41.2"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM<\/jats:italic> gene resulting in genetic instability and an elevated rate of spontaneous sister chromatid exchanges. It leads to insulin resistance, early-onset diabetes, dyslipidemia, growth delay, immune deficiency and cancer predisposition. Recent studies demonstrate that the BLM<\/jats:italic> gene is highly expressed in pancreatic islet cells and its mutations can alter the expression of other genes which are associated with apoptosis control and cell proliferation.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n A 5-month-old female patient from consanguineous parents presented with drug-resistant CHI and dysmorphic features. Genetic testing revealed a homozygous mutation in the KCNJ11<\/jats:italic> gene and an additional homozygous mutation in the BLM<\/jats:italic> gene. While 18<\/jats:sup>F-DOPA PET scan images were consistent with a focal CHI form and intraoperative frozen\u2010section histopathology was consistent with diffuse CHI form, postoperative histopathological examination revealed features of an atypical form.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n In our case, the patient carries two distinct diseases with opposite metabolic phenotypes.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2021-0464","type":"journal-article","created":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T21:22:09Z","timestamp":1635283329000},"source":"Crossref","is-referenced-by-count":1,"title":["The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome"],"prefix":"10.1515","volume":"0","author":[{"given":"Maria","family":"Melikyan","sequence":"first","affiliation":[{"name":"Endocrinology Research Center , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diliara","family":"Gubaeva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Nikitina","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Center , Saint-Petersburg , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daria","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Center , Saint-Petersburg , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Mitrofanova","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Center , Saint-Petersburg , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daria","family":"Yukhacheva","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry","family":"Pershin","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Shcherbina","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgeniy","family":"Vasilyev","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Proshchina","sequence":"additional","affiliation":[{"name":"Research Institute of Human Morphology , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuliya","family":"Krivova","sequence":"additional","affiliation":[{"name":"Research Institute of Human Morphology , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anatoly","family":"Tiulpakov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center , Moscow , Russia"},{"name":"Research Center for Medical Genetics , Moscow , Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,10,27]]},"reference":[{"key":"2021122910370351602_j_jpem-2021-0464_ref_001_w2aab3b7b3b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Stanley, CA. 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