2 results match your criteria: "Ankara Etlik City Hospital Health Complex Children's Hospital[Affiliation]"
Correction: Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
BMC Nephrol
August 2024
Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey.
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
BMC Nephrol
July 2024
Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey.
Article Synopsis
- Nephrotic syndrome can arise from various causes, including metabolic disorders like cobalamin C (cblC) defect, which is linked to mutations in the MMACHC gene affecting vitamin B12 processing and is usually characterized by hematological and neurological symptoms.
- A 7-month-old male patient's case is presented, showcasing symptoms such as fatigue, edema, and laboratory findings that indicated anemia and proteinuria, eventually leading to a diagnosis of nephrotic syndrome caused by the cblC defect confirmed by genetic testing.
- The case emphasizes the importance of identifying metabolic conditions in atypical nephrotic syndrome presentations and suggests that early detection and management can prevent serious complications, such as irreversible renal damage.