Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review
Jiahui Fang, Zhuoheng Li, Lin Zhang, Qiaojian Liu, Jie Mao, Jintao Duan · 2024
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Description
A two-month-old boy with a rare gut condition and kidney stones present from birth is described in a 2024 case report by Jiahui Fang and co-authors. The gut condition, protein-losing enteropathy, drains the body's proteins through the bowel and is seldom seen with stones in a newborn.
The baby arrived at ten days old with severe diarrhea that did not ease on a special formula. A scope found the gut's surface villi lacked their brush border, and gene testing pointed to a fault in the DGAT1 gene. Doctors drained the bladder through a small opening to clear urine, and scans showed the kidney stones. The report adds a rare case to the literature and shows how gene testing settled the diagnosis.
Catalog record
| CREATOR | Jiahui Fang, Zhuoheng Li, Lin Zhang, Qiaojian Liu, Jie Mao, Jintao Duan |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 13 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |