{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:34:44Z","timestamp":1740126884598,"version":"3.37.3"},"reference-count":25,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Geburtshilfe Neonatol"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital diarrheal disorders (CDDs) are a heterogeneous group of inherited\n                    diseases that typically occur in the first weeks of life or can present later in\n                    life after the introduction of different nutrients; they can cause\n                    life-threatening severe dehydration and electrolyte disturbances. This study was\n                    conducted to characterize the causes of monogenic CDDs, and their clinical\n                    consequences. Clinical characteristics of 31 patients with CDDs that occurred in\n                    the first month of life and lasted more than 2 weeks were analyzed\n                    retrospectively. The patients were divided into groups according to the current\n                    CDD classification. The rate of consanguinity among parents was 77.4%.\n                    Of the patients, 16 (51.6%) were female and 15 (48.4%) were\n                    male. The underlying genetic defect was determined in 26 (83.9%)\n                    patients. The most common etiologic factors were digestive disorders of food and\n                    absorption and transport of electrolytes (58.1%, 18\/31) (most of\n                    them being carbohydrate malabsorption disorders, 12\/18) and intestinal\n                    immune system disorders (9.6%, 3\/31). Total parenteral nutrition\n                    (TPN) was given to 45.2% (14\/31) of the patients. Mortality rate\n                    was 28.5% (8\/28). In conclusion, early diagnosis and treatment\n                    of CDDs with high morbidity and mortality is extremely important in terms of\n                    prognosis. Clinical and laboratory findings, stool characteristics,\n                    histopathological findings and the effects of dietary therapy are the primary\n                    and most important steps that lead to accurate diagnosis. In addition, advanced\n                    diagnostic possibilities, including genetic analyses, are essential for\n                    diagnosing underlying diseases.<\/jats:p>","DOI":"10.1055\/a-1774-5005","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T23:08:43Z","timestamp":1652742523000},"page":"311-318","source":"Crossref","is-referenced-by-count":0,"title":["Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn:\n                    A Single Center Experience"],"prefix":"10.1055","volume":"226","author":[{"given":"Ferda \u00d6zbay","family":"Ho\u015fnut","sequence":"additional","affiliation":[{"name":"Pediatric gastroenterology, Dr. Sami Ulus Maternity and Child Health\n                    Training and Research Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulseren Evirgen","family":"Sahin","sequence":"additional","affiliation":[{"name":"Pediatric gastroenterology, Dr. Sami Ulus Maternity and Child Health\n                    Training and Research Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Ozyaz\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Neonatology, Dr. Sami Ulus Maternity and Child Health Training and\n                    Research Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4989-221X","authenticated-orcid":false,"given":"Asburce","family":"Olgac","sequence":"additional","affiliation":[{"name":"Metabolism, Dr. Sami Ulus Maternity Child Health and Diseases Training\n                    and Research Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysel Unlusoy","family":"Aksu","sequence":"additional","affiliation":[{"name":"Pediatric gastroenterology, Dr. Sami Ulus Maternity and Child Health\n                    Training and Research Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,5,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1038\/nrgastro.2015.44","article-title":"Congenital diarrheal disorders: advances in this evolving web of inherited\n                    enteropathies","volume":"12","author":"R B Canani","year":"2015","journal-title":"Nat Rev Gastroenterol Hepatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.clp.2019.10.010","article-title":"Congenital diarrheal syndromes","volume":"47","author":"A A Elkadri","year":"2020","journal-title":"Clin Perinatol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"187e211","DOI":"10.1016\/j.bpg.2016.03.004","article-title":"Congenital intestinal diarrheal diseases: a diagnostic and therapeutic\n                    challenge","volume":"30","author":"C Posovszky","year":"2016","journal-title":"Best Pract Res Clin Gastroenterol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"2045","DOI":"10.1053\/j.gastro.2018.03.067","article-title":"Advances in evaluation of chronic diarrhea in infants","volume":"154","author":"J R Thiagarajah","year":"2018","journal-title":"Gastroenterology"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1471-2431-13-59","article-title":"A systematic review and meta-analysis to revise the Fenton growth chart for\n                    preterm infants","volume":"13","author":"T R Fenton","year":"2013","journal-title":"BMC Pediatr"},{"key":"ref6","first-page":"270e8","article-title":"Iron deficiency and other types of anemia in infants and children","volume":"93","author":"M Wang","year":"2016","journal-title":"Am Fam Physician"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"497","DOI":"10.3906\/sag-1807-282","article-title":"Reference ranges for serum immunoglobulin (IgG, IgA, and IgM) and IgG subclass\n                    levels in healthy children","volume":"49","author":"R O Bayram","year":"2019","journal-title":"Turk J Med Sci"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"29e32","DOI":"10.1093\/pch\/18.1.29","article-title":"Paediatric acid-base disorders: a case-based review of procedures and\n                    pitfalls","volume":"18","author":"J B Carmody","year":"2013","journal-title":"Paediatr Child Health"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"301e21","DOI":"10.1016\/j.clp.2020.02.007","article-title":"Congenital diarrheal diseases","volume":"47","author":"M Younis","year":"2020","journal-title":"Clin Perinatol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1097\/MPG.0000000000000485","article-title":"Intractable diarrhea of infancy: 10 years of experience","volume":"59","author":"H Hizarcioglu-Gulsen","year":"2014","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"e86","DOI":"10.1016\/j.dld.2014.07.058","article-title":"Congenital diarrheal disorders: results from 5 years activity of a dedicated\n                    network","volume":"46","author":"V Pezzella","year":"2014","journal-title":"Dig Liver Dis"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"505","DOI":"10.24953\/turkjped.2019.04.006","article-title":"Two years of newborn screening for cystic fibrosis in Turkey: \u00c7ukurova\n                    experience","volume":"61","author":"A\u015e \u015ea\u015fih\u00fcseyino\u011flu","year":"2019","journal-title":"Turk J Pediatr"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1111\/jpc.14702","article-title":"Literature review on congenital glucose-galactose malabsorption from 2001 to\n                    2019","volume":"56","author":"W Wang","year":"2020","journal-title":"J Paediatr Child Health"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1016\/j.pedneo.2021.05.024","article-title":"Early onset congenital diarrheas; single center experience","volume":"62","author":"M Cakir","year":"2021","journal-title":"Pediatr Neonatol"},{"key":"ref15","first-page":"78","article-title":"Causes of chronic non-infectious diarrhoea in infants less than 6 months of age:\n                    rarely recognized entities","volume":"29","author":"I Mushtaq","year":"2017","journal-title":"J Ayub Med Coll Abbottabad"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1111\/acel.12041","article-title":"The gastrointestinal manifestations of telomere-mediated disease","volume":"12","author":"N L Jonassaint","year":"2013","journal-title":"Aging Cell"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"1354","DOI":"10.1016\/j.jaci.2014.07.019","article-title":"Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results\n                    from tetratricopeptide repeat domain 7A deficiency","volume":"134","author":"R Lemoine","year":"2014","journal-title":"Allergy Clin Immunol"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"e327","DOI":"10.1097\/MD.0000000000000327","article-title":"Multiple intestinal atresia with combined immune deficiency related to TTC7A\n                    defect is a multiorgan pathology: study of a French-Canadian-based cohort","volume":"93","author":"I Fernandez","year":"2014","journal-title":"Medicine (Baltimore)"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1056\/NEJMoa1615887","article-title":"CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis","volume":"377","author":"A Ozen","year":"2017","journal-title":"N Engl J Med"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"260","DOI":"10.4318\/tjg.2011.0211","article-title":"The diagnosis and outcomes of persistent diarrhea in infants aged 0\u201324\n                    months \u2013 a Turkish cohort study","volume":"22","author":"\u00d6 E\u011fr\u0131ta\u015f","year":"2011","journal-title":"Turk J Gastroenterol"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1053\/j.gastro.2013.03.048","article-title":"Congenital proprotein convertase 1\/3 deficiency causes malabsorptive\n                    diarrhea and other endocrinopathies in a pediatric cohort","volume":"145","author":"M G Martin","year":"2013","journal-title":"Gastroenterology"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1550","DOI":"10.1172\/JCI18784","article-title":"Small-intestinal dysfunction accompanies the complex endocrinopathy of human\n                    proprotein convertase 1 deficiency","volume":"112","author":"R S Jackson","year":"2003","journal-title":"J Clin Invest"},{"key":"ref23","first-page":"A357","article-title":"Cbl-G: presentation, treatment, and prolonged followup in a patient with absence\n                    of methionine synthase","volume":"Suppl 51","author":"R S Wildin","year":"1992","journal-title":"Am J Hum Genet"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1080\/15513815.2017.1333178","article-title":"A case study of intractable diarrhea due to neonatal microvillous inclusion\n                    disease","volume":"36","author":"O Bulut","year":"2017","journal-title":"Fetal Pediatr Pathol"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"F1000","DOI":"10.12688\/f1000research.20762.1","article-title":"Recent advances in understanding and managing malabsorption: focus on\n                    microvillus inclusion disease","volume":"8","author":"D Jayawardena","year":"2019","journal-title":"F1000 Res"}],"container-title":["Zeitschrift f\u00fcr Geburtshilfe und Neonatologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1774-5005.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T23:18:24Z","timestamp":1665703104000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1774-5005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,16]]},"references-count":25,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2022,10,13]]},"published-print":{"date-parts":[[2022,10]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1774-5005","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0948-2393","1439-1651"],"issn-type":[{"type":"print","value":"0948-2393"},{"type":"electronic","value":"1439-1651"}],"subject":[],"published":{"date-parts":[[2022,5,16]]}}}