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Tuberous sclerosis complex(TSC) is a rare autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes. The disease can cause multiple organ lesions. The most common renal lesions are renal angiomyolipoma(RAML). In recent years, China has made progresss in the understanding of TSC-RAML, so that the standardization of the diagnosis and management of TSC-RAML have improved. Efforts have been taken in the studies of the pathogenesis and treatment of TSC-RAML. This article reviews the diagnosis, therapy, and research development of TSC-RAML in China.

ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body. TSC-associated kidney disease is the leading cause of death in adult TSC patients. This article retrospectively analyzed the characteristics of one TSC-related renal giant angiomyolipoma(RAML)treated with surgery. The patient, 25 years old, was diagnosed with tuberous sclerosis complex in 2000 due to multiple maculopapular rashes on both cheeks. At a regular follow-up in July 2019, imaging examinations revealed a tumor in the left lower quadrant with a maximum cross-sectional area of 16 cm×7 cm. Genetic testing showed a loss of heterozygosity in the EX18_ 41 of TSC2. After the diagnosis was confirmed, open left partial nephrectomy was performed, during which multiple tumors were found on the kidney surface and the largest one was located on the ventral side with a diameter of approximately 20 cm. After the renal artery was occluded, kidney tumors were completely enucleate. Postoperative pathological confirmed the diagnosis of angiomyolipoma. This case provides a reference for the treatment of TSC-related renal giant hamartoma.

Objective To investigate the feasibility and safety of modified enhanced recovery after surgery (ERAS) in laparoscopic partial nephrectomy. Methods A retrospective analysis was conducted with the clinical data of renal tumor patients treated with laparoscopic partial nephrectomy in the Urology Department of Peking Union Medical College Hospital from May 2019 to June 2021. According to the peri-operative ERAS strategy, they were divided into modified ERAS group and conventional group. The postoperative recovery and complications of the two groups were compared. Results A total of 243 patients were enrolled, including 142 in the modified ERAS group and 101 in the conventional group. There was no significant difference between the two groups in baseline of indicators such as region, age, gender and tumor stage. The time records of first drinking water, the time of first exhaust, the first off-bed movement, catheter removal and drainage tube removal, the post-operative hospital stay and the total expense of hospitalization in the improved ERAS group were significantly superior to those in the conventional group (all P＜0.05). Conclusions The application of improved ERAS during the peri-operative period of laparoscopic partial nephrectomy may accelerate post-operative recovery.

Objective: To analyze the clinical features of retroperitoneal bronchogenic cyst., Methods: The clinical data of 6 cases with retroperitoneal brochogenic cyst treated in Peking Union Medical College Hospital from April 1996 to October 2014 were retrospectively analyzed. The clinical manifestation, diagnosis, treatment and prognosis were analyzed., Results: Of the patients, 1 was male and 5 were female aging from 31 to 50 years with a mean age of 38.3 years. Three cases were diagnosed from physical examination, 2 cases from upper abdominal pain and 1 case from left flank pain. The cysts located in the left adrenal region, between the liver and the pancreas, and anterior aspect of the tail of the pancreas were seen in 4 cases, 1 case and 1 case, respectively. The major diameter was from 5 cm to 13 cm, and the mean major diameter was 7 cm. Ultrasonography and CT scan could reveal cystic, cystic-solid or solid masses. Color doppler flow imaging showed no obvious blood flow, and contrast-enhanced CT scans showed no enhancement or no obvious enhancement. Six cases were all misdiagnosed preoperatively. They all underwent operations via retroperitoneal laparoscopic resection for 3 cases, laparotomy for 2 cases and open flank resection for 1 case respectively. The pathological diagnoses were all bronchogenic cysts. Three symptomatic patients became asymptomatic after operations. Five patients had been followed up. During the follow-up of 2 months to 15 years, no recurrence had been found with CT scan., Conclusions: Retroperitoneal bronchogenic cyst is rare and easily misdiagnosed. It should be considered in the differential diagnosis of a retroperitoneal mass. Most cysts are positioned in the left adrenal region and adjacent regions. Some cysts demonstrate soft tissue characteristics in image. After surgical removal, the patients have a good prognosis.

Objective: To explore the effects of different forms of glucocorticoid excess on cortisol/cortisone ratio and to reveal the mechanisms of hypokalemia in Cushing's syndrome patients., Methods: The levels of urinary free cortisol (UFF) and urinary free cortisone (UFE) were determined in 6 adult patients with ectopia adrenocorticotropic hormone (ACTH) syndrome, 6 normal serum level of potassium adults with hypercortisolism due to adrenal tumor, 5 hypokalemic adults with hypercortisolism due to adrenal tumor and 6 healthy volunteers using high-performance liquid chromatography plus tandem mass spectrometry (LC-MS/MS)., Results: For 4 groups, the results of UFF+UFE were (2 787 ± 820), (689 ± 163), (697 ± 120) and (70 ± 27)µg/L and UFF/UFE ratio 2.98 ± 0.35, 1.03 ± 0.42, 2.24 ± 0.37 and 0.42 ± 0.20 respectively. The values of UFF+UFE had no statistical difference between normal and low levels of serum potassium adults with hypercortisolism. And the ratio of UFF/UFE of hypokalemic adults with hypercortisolism was significantly higher than that of normal serum level of potassium adults with hypercortisolism. It suggested that the deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD 2) was present in hypokalemic adults with hypercortisolism., Conclusion: Due to a deficiency of 11β-HSD2, active cortisol can not be transformed into inactive cortisone in some patients with ACTH-independent Cushing's syndrome.

Objective: To compare clinical outcomes of three dimensional (3D) and traditional two dimentional (2D) laparoscopic pyeloplasty for ureteropelvic junction obstruction (UPJO)., Methods: Clinical data on 31 patients who underwent retroperitoneoscopic pyeloplasty for UPJO in Peking Union Medical Hospital from January 2013 to March 2014 were retrospectively analyzed. There were 16 male and 15 female patients, and the age ranged from 21 to 42 years, mean (30 ± 6) years. The lesions of 20 cases were located on the left side and 11 cases on the right side. All cases were diagnosed as UPJO by B ultrasound and computed tomography urography (CTU). According to 3D or 2D laparoscopy, these patients were divided into two groups. The 3D laparoscopy group included 16 cases, who received 3D retroperitoneoscopic pyeloplasty. The 2D laparoscopy group included 15 cases, who received traditional 2D retroperitoneoscopic pyeloplasty. Demographic data (gender, age, laterality, body mass index), perioperative indexes and clinical outcomes (operative time, estimated blood loss , postoperative hospital stay, total hospitalization charge) were collected and compared between two groups.Numerical demographic and perioperative data were analyzed by using Student's t-test. Categorical data were compared using Pearson's Chi-square test., Results: All operations were completed successfully without open convertion.In the 3D laparoscopy group operative time was significantly shorter than 2D laparoscopy group ((106 ± 16) minutes vs. (124 ± 24) minutes, t = 5.993, P = 0.021) . There were no significant difference between two groups on the estimated blood loss ((54 ± 14) ml vs. (57 ± 16) ml, t = 0.285, P = 0.598), postoperative hospital stay ((7.3 ± 0.7) days vs. (7.5 ± 0.6) days, t = 1.415, P = 0.244), incidence of postoperative complications (0/16 vs. 1/15, χ(2) = 1.102, P = 0.484) and total hospitalization charge ((25 687 ± 3 032) RMB vs. (25 426 ± 2 626) RMB, t = 0.065, P = 0.800) . All patients were followed up from 3 to 12 months (mean 6 months).Ureteropelvic junction stricture recurred in 2 cases respectively from 3D laparoscopic group and traditional laparoscopic group. Both were cured., Conclusions: 3D laparoscopic pyeloplasty is safe and feasible. Compared with the traditional 2D laparoscopic technology, 3D laparoscopy technology reduces the operation difficulty and shortens the operative time.