This is the first report of fecal microbiota transplantation (FMT) in patients with chronic kidney disease. The patient was subjected to focal segmental glomerulosclerosis (FSGS), with onset in April 2021. The main manifestation featured abnormal renal function and no proteinuria at the level of nephrotic syndrome. In May 2021, she showed biopsy-proven FSGS and was treated with glucocorticoid. However, after glucocorticoid reduction, the patient’s serum creatinine increased again, so she adjusted the dosage and continued use until now. In April 2022, the patient was prescribed the FMT capsules. After FMT, the renal function remained stable, urinary protein decreased, reaching the clinical standard of complete remission, and there was no recurrence after glucocorticoid reduction. Furthermore, the patient showed significantly decreased hyperlipidemia, triglyceride (TG) and cholesterol (CHO) after FMT. During FMT, the level of cytokines fluctuated slightly, but returned to the pre-transplantation level after three months. From this, we conclude that FMT is a potential adjuvant therapy for FSGS, and patients can benefit from improving renal function and dyslipidemia.

Renal coloboma syndrome (RCS) is also known as papillorenal syndrome. It is a highly variable autosomal dominant genetic disease characterized by the abnormal development of the kidney and eyes. Approximately 50% of reported cases are related to mutations in the PAX2 gene. Herein, we report the case of a patient with the most common mutation site variant in RCS but with the presentation of specific renal imaging findings and mild ocular manifestations. The patient is a 28-year-old-woman;, urological magnetic resonance imaging revealed multiple cystic lesions adjacent to the renal pelvis, gene detection revealed the PAX2 gene c.76dup mutation, a subsequent eye examination found the optic disc is small and compact, and a large number of myelinated nerve fibers in both eyes. This patient presented with new clinical manifestations of RCS with the most common mutation site variant. These findings contribute to further delineating the clinical characteristics of RCS, enhancing our understanding of this disease.