ReviewBMC medical genomics2024
Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.
Review in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Observational
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6 authors.
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Abstract
backgroundProtein-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.
conclusionsWe reported a rare newborn with PLE and congenital kidney stones carrying DGAT1 mutations.
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