Abstract
Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a fundamental step to reach the correct diagnosis. A comprehensive and structured diagnostic approach is required in order to select between cystic fibrosis, innate errors of the metabolism or malabsorption syndromes as possible causes. The sweat test is the goldstandard method to diagnose cystic fibrosis although it is widely recognized that there are some inherent limitations to the test. For that reason, it is important to discuss unexpected results and to reassess, when possible, the exams previously performed, which can be crucial to make the diagnosis. Here, the authors report a patient with minor dysmorphic features associated with failure to thrive and a positive result for the sweat test and its following investigation to achieve the definite diagnosis of Bartter syndrome.
References
- 1. Jaffe AC. Failure to Thrive: Current Clinical Concepts. Pediatr Rev 2011, 32(3):100–8.
- 2. Lazzara A, Daymont C, Ladda R, Lull J, Ficicioglu C, Cohen JL, et al. Failure to Thrive: An Expanded Differential Diagnosis. J Pediatr Genet 2019, 8(1):027–32.
- 3. Marcdante KJ, Nelson Essentials of Pediatrics, 8th ed, Vol. 1, Elsevier, 2018.p.244-252.
- 4. Larson-Nath C, Biank VF. Clinical Review of Failure to Thrive in Pediatric Patients. Pediatr Ann 2016, 45(2):e46–9.
- 5. Maia C, Garrido A, Carvalho I, Pinto H, Vaz L, Ferreira G. Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis. Port J Nephrol Hypertens 2014, 28(4):348–51.
- 6. Kiran Bv, Barman H, Iyengar A. Clinical profile and outcome of renal tubular disorders in children: A single center experience. Indian J Nephrol 2014, 24(6):362.
- 7. Adde FV. Teste de suor para o diagnóstico de fibrose cística. Recomendações - Atualização de Condutas em Pediatria (serial online) 2015, 73:3–7. Available from: URL: https://www.spsp.org.br/site/asp/recomendacoes/Rec_73_Pneumo.pdf
- 8. Cunha TS, Heilberg IP. Bartter syndrome: Causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis 2018, 11:291–301.
- 9. Gajendragadkar A, Bhamkar R. Antenatal Bartter′s syndrome with sensorineural deafness. Indian J Nephrol 2009, 19(1):23.
- 10. Calò LA, Ravarotto V. Bartter and Gitelman Syndromes. Encyclopedia of Endocrine Diseases, 2nd ed, Vol. 3, Elsevier, 2019, 3:713–21. https://doi.org/10.1016/B978-0-12-801238-3.65335-7
- 11. Colussi G. Bartter syndrome. Orphanet Encycl 2005, Available from: URL: http://www.orpha.net/data/patho/GB/uk-Bartter.pdf. Accessed 28 November 2019
Abstract
Büyüme gelişme geriliği tanımlanması zor bir kavramdır ve bir çok hastalıkla ilişkili olabilir. Bu nedenle, tüm verilerin (aile öyküsü, perinatal ve süt çocukluğuna ait bilgiler) fizik muayene ve laboratuvar bulguları ile birleştirilmesi doğru tanıya ulaşmak için temel basamaktır. Kistik fibroz, doğumsal metabolik hastalıklar veya malabsorpsiyon sendromları gibi olası nedenler arasında doğru tanıya ulaşmak için kapsamlı ve yapılandırılmış bir tanı yaklaşımı gereklidir. Kistik fibroz tanısında ter testi altın standart tanı yöntemdir fakat testin bazı sınırlamaları olduğu yaygın olarak kabul görmektedir. Bu nedenle, beklenmedik sonuçları mümkün olduğunda tekrarlamak ve daha önce yapılan muayeneleri yeniden değerlendirmek tanı için önemlidir. Yazarlar burada büyüme gelişme geriliği ile ilişkili minor dismorfik bulguları olan ve ter testi pozitif olan bir hastada Bartter sendromu kesin tanısına ulaşmak için yapılan sonraki incelemeler bildirilmiştir.
References
- 1. Jaffe AC. Failure to Thrive: Current Clinical Concepts. Pediatr Rev 2011, 32(3):100–8.
- 2. Lazzara A, Daymont C, Ladda R, Lull J, Ficicioglu C, Cohen JL, et al. Failure to Thrive: An Expanded Differential Diagnosis. J Pediatr Genet 2019, 8(1):027–32.
- 3. Marcdante KJ, Nelson Essentials of Pediatrics, 8th ed, Vol. 1, Elsevier, 2018.p.244-252.
- 4. Larson-Nath C, Biank VF. Clinical Review of Failure to Thrive in Pediatric Patients. Pediatr Ann 2016, 45(2):e46–9.
- 5. Maia C, Garrido A, Carvalho I, Pinto H, Vaz L, Ferreira G. Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis. Port J Nephrol Hypertens 2014, 28(4):348–51.
- 6. Kiran Bv, Barman H, Iyengar A. Clinical profile and outcome of renal tubular disorders in children: A single center experience. Indian J Nephrol 2014, 24(6):362.
- 7. Adde FV. Teste de suor para o diagnóstico de fibrose cística. Recomendações - Atualização de Condutas em Pediatria (serial online) 2015, 73:3–7. Available from: URL: https://www.spsp.org.br/site/asp/recomendacoes/Rec_73_Pneumo.pdf
- 8. Cunha TS, Heilberg IP. Bartter syndrome: Causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis 2018, 11:291–301.
- 9. Gajendragadkar A, Bhamkar R. Antenatal Bartter′s syndrome with sensorineural deafness. Indian J Nephrol 2009, 19(1):23.
- 10. Calò LA, Ravarotto V. Bartter and Gitelman Syndromes. Encyclopedia of Endocrine Diseases, 2nd ed, Vol. 3, Elsevier, 2019, 3:713–21. https://doi.org/10.1016/B978-0-12-801238-3.65335-7
- 11. Colussi G. Bartter syndrome. Orphanet Encycl 2005, Available from: URL: http://www.orpha.net/data/patho/GB/uk-Bartter.pdf. Accessed 28 November 2019
Details
| Primary Language | English |
|---|---|
| Subjects | Paediatrics |
| Journal Section | Case Report |
| Authors | |
| Publication Date | May 17, 2021 |
| Published in Issue | Year 2021 Volume: 21 Issue: 1 |
