Renal fibrosis represents the core pathway through which chronic kidney disease progresses to end-stage renal failure. Therapeutic strategies targeting renal fibrosis provide an important approach for clinically mitigating the transition from acute kidney injury to chronic kidney disease. Macrophages, owing to their high heterogeneity in origin and phenotype, play a significant role in various stages of acute inflammation, tissue repair, and fibrosis, thereby holding substantial promise for the treatment of renal fibrosis. This review summarizes the pivotal role of renal macrophages in the transition from acute kidney injury to chronic kidney disease, with a focus on their temporal phenotypic reprogramming characteristics and the fibrotic microenvironment interaction network constituted by injured tubules, macrophages, and fibroblasts. On this basis, we systematically outline four core categories of macrophage-targeted intervention strategies: modulation of upstream signaling pathways, induction of macrophage phenotypic reprogramming, blockade of profibrotic factors and their downstream pathways, and selective depletion or engineered modification of profibrotic macrophage subsets. This review aims to provide new insights for future exploration of the timing, precision, and efficacy of macrophage-targeted therapies.

Renal Fanconi syndrome (FS) is a rare renal manifestation of primary Sjögren's syndrome (pSS). This study aims to analyze the clinical and prognostic characteristics of patients with pSS-associated renal FS (pSS-FS) and provide insights for clinical management.

When inflammation is continuously activated or dysregulated， it can induce chronic tissue injury and organ dysfunction， and participate in the occurrence and development of various inflammatory diseases such as atherosclerosis and inflammatory bowel disease. Owing to high targeting， long-acting efficacy and programmability， nucleic acid drugs provide a new direction for the treatment of inflammatory diseases. This article reviews the classification， mechanism of action and application progress of nucleic acid drugs in inflammatory diseases. It is found that small interfering RNA （siRNA） can specifically cut target mRNA through RNA interference to achieve inhibiting the expression of the target protein； antisense oligonucleotide （ASO） can inhibit target protein expression by inducing microRNA （miRNA） degradation or regulating splicing processes； miRNA can achieve network intervention by regulating multiple inflammatory target genes. At present， important breakthroughs have been made in the field of inflammatory diseases with siRNA drugs including Lumasiran， Nedosiran （for primary hyperoxaluria 1） and Inclisiran （for atherosclerosis）， ASO drugs including Donidalorsen （for hereditary angioedema）， Volanesorsen and Olezarsen （for familial chylomicronemia syndrome） and Lademirsen （for Alport syndrome）， as well as miRNA drugs including Obefazimod （for inflammatory bowel disease） and Remlarsen （for pathological fibrosis）. These drugs are expected to become a new generation of anti-inflammatory therapeutic strategies and bring more precise and efficient treatment options for patients with chronic inflammation and fibrotic diseases.

Sodium-glucose transporter 2 (SGLT2) encoded by the SLC5A2 gene, is localized on the brush border membrane of renal proximal tubules and mediates the reabsorption of approximately 90% of glucose filtered by the glomeruli. It serves as the molecular basis for familial renal glucosuria (FRG). SGLT2 inhibitors have been widely used to treat diabetes, diabetic nephropathy, chronic kidney disease, and other conditions. The 17 kDa membrane-associated protein (MAP17) regulates SGLT2 function, and mutations in the gene encoding MAP17 can lead to FRG. Investigations into genotype-phenotype correlations in FRG patients and the structural biology of SGLT2 are critical for understanding its physiological mechanisms and pharmacological actions of SGLT2 inhibitors. This review summarizes current knowledge on genotype-phenotype relationships in FRG, advances in SGLT2 protein structure research, and MAP17-mediated regulation of SGLT2. These insights elucidate SGLT2's physiological roles and provide a theoretical foundation for optimizing clinical applications of SGLT2 inhibitors.

Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China. However, the emerging challenges in clinical diagnosis and treatment of rare diseases make it unable for data and resource platform to fully meet the diversified needs. Under this backdrop, we have developed a protocol to optimize and upgrade the system based on the core functions of the NRDRS platform. The goal is to leverage intelligent digital technologies to transform NRDRS into a new platform integrating multimodal data and auxiliary diagnostic and treatment functions. It is specified as the development and construction of "one platform and four intelligent tools." Currently, we have upgraded and developed NRDRS platform, intelligent tool for genotype-phenotype analysis of rare diseases, AI-assisted diagnostic tool for rare diseases, remote multidisciplinary diagnosis and teaching tool for rare diseases, drug screening and validation tool for rare diseases. The next step will focus on the promotion of the application of these tools in clinical settings in order to address the issue of severe imbalance in the allocation of resources for the diagnosis and treatment of rare diseases. This article provides an overview of the digital and intelligent upgrades of the NRDRS, the trials in applications in clinical settings, and direction in the future.

A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.

Sodium-glucose transporter 2 (SGLT2) encoded by the SLC5A2 gene, is localized on the brush border membrane of renal proximal tubules and mediates the reabsorption of approximately 90% of glucose filtered by the glomeruli. It serves as the molecular basis for familial renal glucosuria (FRG). SGLT2 inhibitors have been widely used to treat diabetes, diabetic nephropathy, chronic kidney disease, and other conditions. The 17 kDa membrane-associated protein (MAP17) regulates SGLT2 function, and mutations in the gene encoding MAP17 can lead to FRG. Investigations into genotype-phenotype correlations in FRG patients and the structural biology of SGLT2 are critical for understanding its physiological mechanisms and pharmacological actions of SGLT2 inhibitors. This review summarizes current knowledge on genotype-phenotype relationships in FRG, advances in SGLT2 protein structure research, and MAP17-mediated regulation of SGLT2. These insights elucidate SGLT2's physiological roles and provide a theoretical foundation for optimizing clinical applications of SGLT2 inhibitors.

Since the discovery of anti-phospholipase A2 receptor antibodies, the diagnosis of primary membranous nephropathy has evolved from reliance on renal tissue biopsy to the use of serum assays in certain patients, owing to continuously developing and improving methodologies. The advancement of detection methods and the discovery of new antigens are driving primary membranous nephropathy to personalized diagnosis and treatment. This article summarizes the evolution of antigens and antibodies detection techniques related to primary membranous nephropathy, aiming to explore the advantages, disadvantages, and possible future directions of methodology.

Since the discovery of anti-phospholipase A2 receptor antibodies, the diagnosis of primary membranous nephropathy has evolved from reliance on renal tissue biopsy to the use of serum assays in certain patients, owing to continuously developing and improving methodologies. The advancement of detection methods and the discovery of new antigens are driving primary membranous nephropathy to personalized diagnosis and treatment. This article summarizes the evolution of antigens and antibodies detection techniques related to primary membranous nephropathy, aiming to explore the advantages, disadvantages, and possible future directions of methodology.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria (2024), with the hope of promoting the standardization of PNH diagnosis and treatment.