Lipodystrophy syndromes are rare disorders of variable body fat loss associated with potentially serious metabolic complications. Familial partial lipodystrophy (FPLD) is mostly inherited as an autosomal dominant disorder. Renal involvement has only been reported in a limited number of cases of FPLD. Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now. A 15-year-old girl presented with insulin resistance, hypertriglyceridaemia, hepatic steatosis and proteinuria. Her glucose and glycated haemoglobin levels were within normal laboratory reference ranges. A novel heterozygous frameshift mutation in PLIN1 was identified in the patient and her mother. The kidney biopsy showed glomerular enlargement and focal segmental glomerulosclerosis under light microscopy; the electron microscopy results fit with segmental thickening of the glomerular basement membrane. Treatment with an angiotensin-converting enzyme inhibitor (ACEI) decreased 24-h protein excretion. We report the first case of proteinuria and renal biopsy in a patient with FPLD4. Gene analysis demonstrated a novel heterozygous frameshift mutation in PLIN1 in this patient and her mother. Treatment with ACEI proved to be beneficial.

Introduction: Pneumocystis jirovecii pneumonia (PJP) is a common opportunistic infection. With the wide application of glucocorticosteroids and immunosuppressants, the incidence and mortality rates of PJP in connective tissue disease (CTD) patients with interstitial lung disease (ILD) are increasing. Methods: We retrospectively enrolled consecutive CTD-ILD patients with PJP in our center between January 2014 and December 2022. Cox regression models were constructed to explore prognostic factors in CTD-ILD-PJP patients. Results: There were 159 CTD-ILD patients [60 (51, 68) years, 61.0% female] with PJP, 78 (49.1%) of whom died. Compared with those in the CTD-non-ILD-PJP group, there were more pneumomediastinum cases (16.4% vs. 6.7%, p = 0.030) and significantly higher all-cause mortality rates (49.1% vs. 33.7%, p = 0.019) in the CTD-ILD-PJP group. Multivariate analysis indicated that IIM (HR = 2.635, 95% CI: 1.383–5.019), pneumomediastinum (HR = 2.877, 95% CI: 1.483–5.582), oral candidiasis infection (HR = 2.596, 95% CI: 1.229–5.483), aspergilli infection (HR = 2.886, 95% CI: 1.412–5.900), and lower minimal albumin (Alb) (HR = 0.872, 95% CI: 0.819–0.927) were independent risk factors associated with poor survival in CTD-ILD-PJP patients. Conclusions: CTD-ILD-PJP patients were mainly middle-aged females and had higher mortality rates than CTD-PJP patients without ILD. IIM, pneumomediastinum, oral candidiasis infection, aspergilli infection, and lower minimal Alb were independent risk factors associated with poor survival in CTD-ILD-PJP patients. Key Points• CTD-ILD-PJP patients had higher mortality rates than CTD-PJP patients without ILD.• IIM, pneumomediastinum, oral candidiasis infection, aspergilli infection, and lower minimal Alb were independent survival risk factors in CTD-ILD-PJP patients.• The study explored susceptibility and prognostic risk factors of CTD-ILD-PJP patients, to reduce the incidence and mortality.

Immune-related adverse events (irAEs) of immunotherapy would lead to the temporary or permanent discontinuation of immune checkpoint inhibitors (ICIs). Among them, checkpoint inhibitor pneumonitis (CIP) is a potentially life-threatening irAE. This study aimed to identify the differences between patients with low-grade CIPs (grades 1–2) and high-grade CIPs (grades 3–5) and to explore the prognostic factors. We retrospectively reviewed the medical records of 916 lung cancer patients who were treated with ICIs. Patients with CIPs were identified after multidisciplinary discussion, and their clinical, laboratory, radiological, and follow-up data were analyzed. Among the 74 enrolled CIP patients, there were 31 low-grade CIPs and 43 high-grade CIPs. Compared with low-grade CIP patients, patients with high-grade CIPs were older (65.8 years vs. 61.5 years) and had lower serum albumin (35.2 g/L vs. 37.9 g/L), higher D-dimer (5.1 mg/L vs. 1.7 mg/L), and more pulmonary infectious diseases (32.6% vs. 6.5%) during follow-up. In addition, complication with pulmonary infectious diseases, management with intravenous immunoglobulin, tocilizumab, and longer duration of large dosage corticosteroids might be associated with worse outcomes for patients with CIPs. This study highlights potential risk factors for high-grade CIP and poor prognosis among lung cancer patients who were treated with anti-cancer ICIs.