2024年 · 第104卷第18期

The patient, a 40-year-old female, went to the National Kidney Disease Clinical Medical Research Center of the Eastern Theatre General Hospital in November 2023 due to "abnormal urine test for more than 3 years". Three years ago, due to waist discomfort, I went to the local hospital for positive urine protein examination (the urine protein quantification was 0.42 g/24 h), and my renal function was normal. There was no regular diagnosis and treatment. Recently, my urine protein increased (the quantification was 1.6 g/24 h), and my renal function and blood lipid levels were normal. The patient's mother has 5 siblings. The mother and one aunt were diagnosed with lipoprotein nephropathy (LPG) by renal puncture in an outside hospital. Another aunt had urinary abnormalities, and the first brother died unexpectedly. Now the patient's mother has entered maintenance hemodialysis. The patient has 2 siblings. Considering the possibility of LPG, the patient was admitted to the hospital for renal biopsy. The pathology showed that the glomerular volume was increased, and there were more lamellar embolus with periodate Schiff (PAS) staining in the capillary haptics (Figure 1, ×200), which was positive for apolipoprotein E (ApoE) staining (Figure 2, immunofluorescence ×400). Under the electron microscope, vacuolar lipid droplets arranged in sediment-like layers were seen in the haptic cavity (Figure 3, ×2 900), which was consistent with LPG. Whole exon sequencing confirmed that the patient had a c.580_581insCCCTCC insertion variant, resulting in the insertion of proline and leucine between amino acids 193 and 194 of the ApoE gene on chromosome 19, resulting in the mutated ApoE isomer. Family members verified the presence of the pathogenic variant in their mother, and the younger brother carried the pathogenic gene but did not have proteinuria and other kidney disease manifestations. After 2 months of fenofibrate treatment, the patient's urinary protein turned negative. LPG is a rare glomerular disease with autosomal dominant inheritance of ApoE gene mutation and incomplete manifestation. There are a large number of lamellar, apoE-positive lipoprotein embolisms in the glomerular capillary haptics, and proteinuria is the main manifestation. Most patients' blood ApoE levels are elevated, and treatment with glucocorticoids and immunosuppressants is ineffective. Fenofibrate treatment can reduce proteinuria, which progresses to renal insufficiency in the later stage. In this case, the patient only presented with moderate amount of proteinuria, no dyslipidemia, and was finally diagnosed with LPG by renal biopsy pathology, combined with genetic testing and his family history.

Chinese Medical Journal, Volume 102, Issue 34, September 13, 2022, article "Case 563rd Rash-Fever-Anuria-Vision Decrease", page 2708 Figure 1 is cited from the article "Anuria, Sudden Blindness, Disorder of Consciousness: An Unusual Case of" Adult Stills Disease "" in Rare Disease Research, Issue 1, 2022, and has obtained the secondary publication license of related images. Here, the supplementary citation of the literature "Le Si, Liu Yan, Qin Yan, et al. Anuria, Sudden Blindness, Disorder of Consciousness: An Unusual Case of" Adult Stills Disease "[J]. Rare Disease Research, 2022, 1 (1): 51-55. DOI: 10.12376/j.issn.2097-0501.2022.01.009". Corrections are hereby made.