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DOI: 10.1055/a-1774-5005
Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience
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Abstract
Congenital diarrheal disorders (CDDs) are a heterogeneous group of inherited diseases that typically occur in the first weeks of life or can present later in life after the introduction of different nutrients; they can cause life-threatening severe dehydration and electrolyte disturbances. This study was conducted to characterize the causes of monogenic CDDs, and their clinical consequences. Clinical characteristics of 31 patients with CDDs that occurred in the first month of life and lasted more than 2 weeks were analyzed retrospectively. The patients were divided into groups according to the current CDD classification. The rate of consanguinity among parents was 77.4%. Of the patients, 16 (51.6%) were female and 15 (48.4%) were male. The underlying genetic defect was determined in 26 (83.9%) patients. The most common etiologic factors were digestive disorders of food and absorption and transport of electrolytes (58.1%, 18/31) (most of them being carbohydrate malabsorption disorders, 12/18) and intestinal immune system disorders (9.6%, 3/31). Total parenteral nutrition (TPN) was given to 45.2% (14/31) of the patients. Mortality rate was 28.5% (8/28). In conclusion, early diagnosis and treatment of CDDs with high morbidity and mortality is extremely important in terms of prognosis. Clinical and laboratory findings, stool characteristics, histopathological findings and the effects of dietary therapy are the primary and most important steps that lead to accurate diagnosis. In addition, advanced diagnostic possibilities, including genetic analyses, are essential for diagnosing underlying diseases.
Publication History
Received: 13 October 2021
Accepted after revision: 02 February 2022
Article published online:
16 May 2022
© 2022. Thieme. All rights reserved.
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References
- 1 Canani RB, Castaldo G, Bacchetta R. et al. Congenital diarrheal disorders: advances in this evolving web of inherited enteropathies. Nat Rev Gastroenterol Hepatol 2015; 12: 293-302 DOI: 10.1038/nrgastro.2015.44.
- 2 Elkadri AA. Congenital diarrheal syndromes. Clin Perinatol 2020; 47: 87-104 DOI: 10.1016/j.clp.2019.10.010.
- 3 Posovszky C. Congenital intestinal diarrheal diseases: a diagnostic and therapeutic challenge. Best Pract Res Clin Gastroenterol 2016; 30: 187e211 DOI: 10.1016/j.bpg.2016.03.004.
- 4 Thiagarajah JR, Kamin DS, Acra S. et al. Advances in evaluation of chronic diarrhea in infants. Gastroenterology 2018; 154: 2045-2059.e6 DOI: 10.1053/j.gastro.2018.03.067.
- 5 Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatr 2013; 13: 59 DOI: 10.1186/1471-2431-13-59.
- 6 Wang M. Iron deficiency and other types of anemia in infants and children. Am Fam Physician 2016; 93: 270e8
- 7 Bayram RO, Özdemir H, Emsen A. et al. Reference ranges for serum immunoglobulin (IgG, IgA, and IgM) and IgG subclass levels in healthy children. Turk J Med Sci 2019; 49: 497-505 DOI: 10.3906/sag-1807-282.
- 8 Carmody JB, Norwood VF. Paediatric acid-base disorders: a case-based review of procedures and pitfalls. Paediatr Child Health 2013; 18: 29e32 DOI: 10.1093/pch/18.1.29.
- 9 Younis M, Rastogi R, Chugh A. et al. Congenital diarrheal diseases. Clin Perinatol 2020; 47: 301e21 DOI: 10.1016/j.clp.2020.02.007.
- 10 Hizarcioglu-Gulsen H, Saltik-Temizel IN, Demir H. et al. Intractable diarrhea of infancy: 10 years of experience. J Pediatr Gastroenterol Nutr 2014; 59: 571-576 DOI: 10.1097/MPG.0000000000000485.
- 11 Pezzella V, Elce A, Terrin G. et al. Congenital diarrheal disorders: results from 5 years activity of a dedicated network. Dig Liver Dis 2014; 46: e86 DOI: 10.1016/j.dld.2014.07.058.
- 12 Şaşihüseyinoğlu AŞ, Altıntaş DU, Bişgin A. et al. Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience. Turk J Pediatr 2019; 61: 505-512 DOI: 10.24953/turkjped.2019.04.006.
- 13 Wang W, Wang L, Ma M. Literature review on congenital glucose-galactose malabsorption from 2001 to 2019. J Paediatr Child Health 2020; 56: 1779-1784 DOI: 10.1111/jpc.14702.
- 14 Cakir M, Sag E, Guven B. et al. Early onset congenital diarrheas; single center experience. Pediatr Neonatol 2021; 62: 612-619 DOI: 10.1016/j.pedneo.2021.05.024.
- 15 Mushtaq I, Cheema HA, Malik HS. et al. Causes of chronic non-infectious diarrhoea in infants less than 6 months of age: rarely recognized entities. J Ayub Med Coll Abbottabad 2017; 29: 78-82
- 16 Jonassaint NL, Guo N, Califano JA. et al. The gastrointestinal manifestations of telomere-mediated disease. Aging Cell 2013; 12: 319-323 DOI: 10.1111/acel.12041.
- 17 Lemoine R, Pachlopnik-Schmid J, Farin HF. et al. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. Allergy Clin Immunol 2014; 134: 1354-1364.e6 DOI: 10.1016/j.jaci.2014.07.019.
- 18 Fernandez I, Patey N, Marchand V. et al. Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. Medicine (Baltimore) 2014; 93: e327 DOI: 10.1097/MD.0000000000000327.
- 19 Ozen A, Comrie WA, Ardy RC. et al. CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis. N Engl J Med 2017; 377: 52-61 DOI: 10.1056/NEJMoa1615887.
- 20 Eğrıtaş Ö, Sari S, Dalgıç B. et al. The diagnosis and outcomes of persistent diarrhea in infants aged 0–24 months – a Turkish cohort study. Turk J Gastroenterol 2011; 22: 260-269 DOI: 10.4318/tjg.2011.0211.
- 21 Martin MG, Lindberg I, Solorzano-Vargas RS. et al. Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. Gastroenterology 2013; 145: 138-148 DOI: 10.1053/j.gastro.2013.03.048.
- 22 Jackson RS, Creemers JWM, Farooqi IS. et al. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 2003; 112: 1550-1560 DOI: 10.1172/JCI18784.
- 23 Wildin RS, Scott CR. Cbl-G: presentation, treatment, and prolonged followup in a patient with absence of methionine synthase. Am J Hum Genet 1992; Suppl 51: A357
- 24 Bulut O, Ahishali B, Gulluoglu M. et al. A case study of intractable diarrhea due to neonatal microvillous inclusion disease. Fetal Pediatr Pathol 2017; 36: 340-343 DOI: 10.1080/15513815.2017.1333178.
- 25 Jayawardena D, Alrefai WA, Dudeja PK. et al. Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease. F1000 Res 2019; 8: F1000 DOI: 10.12688/f1000research.20762.1.