| Autor: |
Jiahui Fang, Zhuoheng Li, Lin Zhang, Qiaojian Liu, Jie Mao, Jintao Duan |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-5 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1755-8794 |
| DOI: |
10.1186/s12920-024-02046-8 |
| Popis: |
Abstract Background Protein-losing enteropathy (PLE) is a rare condition featured by severe loss of proteins through the gastrointestinal tract. Rare PLE cases complicated with congenital kidney stones have been reported. This case study aimed to illustrate our experiences on the diagnosis and treatment of PLE and congenital kidney stones in a neonate. Case presentation A 10-day-old boy fed on breast milk presented to our department because of severe diarrhea, which showed no significant attenuation after free amino acid milk formula. Gastrointestinal endoscopy revealed absence of brush border of surface villi. Genetic testing was strongly recommended given intractable early-onset diarrhea, severe malnutrition and hypoalbuminemia. Then the patient was diagnosed with PLE based on the clinical manifestations and identification of DGAT1 gene by whole-exome sequencing. The patient underwent percutaneous suprapubic cystostomy to remove the urine, and ultrasonography examination showed kidney stones. Conclusions We reported a rare newborn with PLE and congenital kidney stones carrying DGAT1 mutations. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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