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ObjectiveCarney complex is a rare autosomal dominant syndrome that has been shown to be associated with inactivation due to PRKAR1A mutations. We revealed a novel PRKAR1A gene mutation in Chinese patient with Carney complex and review the literature to enhance understanding of Carney complex.Case presentationA 23-year-old Chinese male patient with a family history cardiac myxoma was admitted to our Department of Endocrinology because of central obesity and hyperpigmentation. Physical examination revealed a maximum blood pressure of 150/93mmHg, a waist circumference of 102cm, a weight of 70kg, a height of 170cm, and a BMI of 24.22kg/m2. Additionally, there was spotty skin pigmentation on the lip mucosa, purple striae on the abdomen, thin skin on both legs, and visible veins. Blood examination revealed hypercortisolemia, decreased adrenocorticotropic hormone (ACTH) levels and failure to suppress cortisol with low and high-dose dexamethasone suppression tests. Magnetic resonance imaging (MRI) scan revealed multiple small adrenal nodules and Retroperitoneal neurogenic tumor. Genetic testing showed a novel heterozygous mutation in exon 5 of PRKAR1A (c.500_502 + 8delAAGGTAAGGGC). The patient underwent resection of the right adrenal gland and retroperitoneal neoplasms in 2020. Postoperative pathology following the right adrenal gland resection showed nodular hyperplasia of the adrenal cortex. The pathology from the retroperitoneal tumor resection revealed spindle cell tumors rich in pigment and cells. The patient was diagnosed as Carney complex according to Stratakis CA in 2001 guidelines. After long-term follow-up, the patient’s condition was stable, with weight loss, waist circumference reduction, significantly lower cortisol levels, and normal blood lipids.ConclusionThis case reported a Carney complex in a Chinese patient, characterized clinically by non-ACTH-dependent Cushing’s syndrome, familial recurrent cardiac myxomas, psammomatous melanotic schwannoma (PMS) and skin and mucosal pigmentation. A novel subtype of PRKAR1A mutation was discovered, which may affect the characteristics of the PRKAR1A protein and contribute to the development of Carney complex.

Purpose: To investigate the effect of beraprost sodium (BPS) on renal function and P38MAPK pathway in diabetic nephropathy (DN) rats. Methods: Sprague Dawley (SD) rats (n = 30) were randomly divided into three groups, viz, normal control (NC), diabetic nephropathy (DN) and beraprost sodium (BPS). Creatinine (Cr), blood urea nitrogen (BUN) and fasting blood glucose (FBG), were determined by Hitachi 7020 automatic biochemical analyzer, while low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG) and total cholesterol (TC) were measured by Olympus 400 automatic biochemical analyzer. Western blot analysis was performed to examine protein expression. Interleukin-6 (IL-6), hs-CRP, and TNF-a levels were evaluated using enzyme linked immunosorbent assay (ELISA). Results: After 8 weeks of treatment, renal function indices (urine output, KW/BW, UAlb/24 h, Cr and BUN), blood lipid indices (FBG, LDL-C, TG and TC) and inflammatory factors levels (IL-6, hs-CRP and TNF-a) in DN group were higher than NC group (p < 0.05). In BPS group, renal function and blood lipid indices and inflammatory factor levels decreased when compared to DN group (p < 0.05). Furthermore, BPS inhibited the protein expression of p-P38MAPK, TGF-ß1 and COX-2. Conclusion: Beraprost sodium improves renal function in DN rats by inhibiting P38MAPK signaling pathway. [ABSTRACT FROM AUTHOR]