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Medicine Apr 2024Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic... (Review)
Review
RATIONALE
Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases.
PATIENT CONCERNS
A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as "hairy kidneys." He underwent. Three bone biopsies were unsuccessful to reach diagnosis.
DIAGNOSES
A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E.
INTERVENTIONS
The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs.
OUTCOMES
At the 1-year follow-up, there was only progression of chronic kidney disease (CKD).
LESSONS
The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.
Topics: Humans; Erdheim-Chester Disease; Male; Aged; Proto-Oncogene Proteins B-raf; Vemurafenib
PubMed: 38669404
DOI: 10.1097/MD.0000000000037870 -
Scientific Reports Feb 2024To compare the safety and effectiveness of the combination of intelligent intrarenal pressure control platforms (IPCP) and flexible ureteral access sheath (FUAS)...
To compare the safety and effectiveness of the combination of intelligent intrarenal pressure control platforms (IPCP) and flexible ureteral access sheath (FUAS) combined with retrograde intrarenal surgery (RIRS) for the treatment of renal stones less than 2 cm. We retrospectively collected 383 patients with renal stones who underwent RIRS in our department from June 2022 to October 2023. Inclusion criteria: stone length or the sum of multiple stone lengths ≤ 2 cm. Finally, 99 cases were included and divided into an IPCP group (n = 40) and FUAS group (n = 59) based on surgical methods. The main endpoint was the stone-free rate (SFR) at third months after surgery, with no residual stones or stone fragments less than 2 mm defined as stone clearance. The secondary endpoints were surgical time and perioperative complications, including fever, sepsis, septic shock, and perirenal hematoma. There was no statistically significant difference in general information between the two groups, including age, gender, body mass index, comorbidities, stone side, stone location, stone length, urine bacterial culture, and hydronephrosis. The operation time for IPCP group and FUAS group was 56.83 ± 21.33 vs 55.47 ± 19.69 min (p = 0.747). The SFR of IPCP group and FUAS group on the first postoperative day was 75.00% vs 91.50% (p = 0.024). The SFR was 90.00% vs 94.90% in the third month (p = 0.349).In IPCP group, there were 11 cases with stones located in the lower renal calyces and 17 cases in FUAS group. The SFR of the two groups on the first day and third months after surgery were 45.50% vs 88.20% (p = 0.014) and 63.60% vs 94.10% (p = 0.040), respectively, with statistical differences. For kidney stones ≤ 2 cm, there was no difference in SFR and the incidence of infection-related complications between IPCP and FUAS combined with RIRS, both of which were superior to T-RIRS. For lower renal caliceal stones, FUAS has a higher SFR compared to IPCP.
Topics: Humans; Ureteroscopy; Retrospective Studies; Treatment Outcome; Kidney Calculi; Diphosphonates
PubMed: 38413652
DOI: 10.1038/s41598-024-55333-w -
Physiology & Behavior Apr 2024High sugar-sweetened beverage intake has been related to human kidney disease and metabolic alterations. We determine the impact of high sucrose intake from pregnancy...
High sugar-sweetened beverage intake has been related to human kidney disease and metabolic alterations. We determine the impact of high sucrose intake from pregnancy until early postnatal days and post-weaning on kidneys from adult male offspring rats. Wistar female rats were mated and assigned into two groups: one control drinking tap water (CM) and another drinking 5 % sucrose diluted in water (SM). Two offspring per mother were randomly allocated into two experimental groups at weaning. One had free access to simple water (CO) and the other to 5 % sucrose (SO) for 14 weeks. After treatment, levels of relative aquaporin-2 (AQP2), glomerulosclerosis index (GI), collecting tube area, perirenal fat, blood creatinine, and blood ureic nitrogen concentration (BUN) were determined. Two-way ANOVA followed by Bonferroni post-hoc test was used, considering P ≤ 0.05 as a significant statistical difference. Sucrose consumption during gestation/lactation and interaction increased AQP2 expression in the renal cortex and BUN concentration. In contrast, gestation/lactation consumption increased collecting tube area, post-weaning consumption favored perirenal fat, and finally, gestation/lactation, post-weaning, and the interaction caused glomerulosclerosis. Our results suggest that the consumption of sucrose water during gestation/lactation or post-weaning or combination triggers pathological changes in the kidneys of adult rats.
PubMed: 38621601
DOI: 10.1016/j.physbeh.2024.114551 -
Cancers Oct 2023Kidney cancer accounts for 3% of adult malignancies and is increasingly detected through advanced imaging techniques, highlighting the need for effective treatment...
Kidney cancer accounts for 3% of adult malignancies and is increasingly detected through advanced imaging techniques, highlighting the need for effective treatment strategies. This retrospective study assessed the safety and efficacy of a new single-probe percutaneous cryoablation system using liquid nitrogen for treating T1a renal cancers. From May 2019 to May 2022, 25 consecutive patients from two academic hospitals, with a median age of 64.8 years [IQR 59; 75.5], underwent cryoablation for 26 T1a renal tumors. These tumors had a median size of 25.3 mm [20; 30.7] and a median RENAL nephrometry score, indicating tumor complexity, of 7 [5; 9]. No major complications arose, but three non-clinically relevant perirenal hematomas were detected on post-procedure CT scans. With a median follow-up of 795 days [573; 1020], the primary local control rate at one month stood was 80.8% (21 out of 26). The five recurrent lesions, which exhibited a higher renal score ( = 0.016), were treated again using cryoablation, achieving a secondary local control rate of 100%. No patient died, and the disease-free survival rate was 92% (23 out of 25). In conclusion, single-probe percutaneous cryoablation emerges as a promising modality for managing small renal masses. Notably, recurrence rates appear influenced by RENAL nephrometry scores, suggesting a need for further research to refine the technique.
PubMed: 37958366
DOI: 10.3390/cancers15215192 -
International Journal of Surgery Case... May 2024Chromophobe renal cell carcinoma (CHRCC) is a rare subtype of renal cancer, accompanied by subcapsular renal hematoma (SRH) without a history of traumatic or hemorrhagic...
INTRODUCTION AND IMPORTANCE
Chromophobe renal cell carcinoma (CHRCC) is a rare subtype of renal cancer, accompanied by subcapsular renal hematoma (SRH) without a history of traumatic or hemorrhagic disease, which is clinically rare. The reason for CHRCC with SRH may be caused by tumor rupture or vascular rupture. In the early stage, it is often asymptomatic and can be easily overlooked and misdiagnosed, leading to delayed treatment and serious consequences.
CASE PRESENTATION
A 39-year-old female patient was admitted to the emergency department due to sudden dull pain and discomfort in the lower back. Subsequent ultrasound, CT, and MRI imaging examinations revealed the presence of chromophobe renal cell carcinoma with a volume of 4.5 × 3.5 × 3 cm in the middle and lower pole of the right kidney. In addition, a subcapsular hematoma with an area of approximately 6 × 11 cm was also found. The patient underwent laparoscopic radical nephrectomy.
CLINICAL DISCUSSION
Due to its atypical syptmoms and signs, it is often overlooked or misdiagnosed. CHRCC has unique histological features, which distinguish it from other subtypes of renal cell carcinoma. Imaging studies such as CT scan and MRI are helpful in diagnosing and identifying associated complications. In this case, the presence of the perirenal hematoma is a notable finding, which may be caused by tumor-induced vascular disruption.
CONCLUSION
This report underscores the importance of recognizing and managing complications associated with CHRCC. Early diagnosis and appropriate surgical treatment are crucial for favorable outcomes in these cases.
PubMed: 38581942
DOI: 10.1016/j.ijscr.2024.109608 -
Annals of Surgical Oncology Sep 2023Hepatocellular carcinoma located in hepatic segment VI/VII or close to the adrenal gland were generally considered challenging for minimally invasive resection. For...
INTRODUCTION
Hepatocellular carcinoma located in hepatic segment VI/VII or close to the adrenal gland were generally considered challenging for minimally invasive resection. For these individualized patients, this may be overcome by the novel use of a retroperitoneal laparoscopic hepatectomy; however, minimally invasive retroperitoneal liver resection is difficult to perform. This video article demonstrates a pure retroperitoneal laparoscopic hepatectomy for a subcapsular hepatocellular carcinoma.
VIDEO
A 47-year-old male patient with Child-Pugh A liver cirrhosis presented with a small tumor located very close to the adrenal gland next to segment VI of the liver. An enhanced abdominal computed tomographic scan demonstrated a solitary 2.3 × 1.6 cm lesion. Considering the special location of the lesion, a pure retroperitoneal laparoscopic hepatectomy was performed after obtaining the patient's consent. The patient was positioned in the flank position. The procedure was carried out using the balloon technique for a retroperitoneoscopic approach, with the patient in the lateral kidney position. The retroperitoneal space was first accessed through a 12-mm skin incision above the anterior superior iliac spine in the mid-axillary line and was expanded by inflating a glove balloon to 900 mL. A 5 mm port below the 12th rib in the posterior axillary line and a 12 mm port below the 12th rib in the anterior axillary line were placed. Following incision of Gerota's fascia, the dissection plane between the perirenal fat and the anterior renal fascia located at the superomedial side of the kidney was explored. The retroperitoneum behind the liver was fully exposed after the upper pole of the kidney was isolated. After localization of the tumor by intraoperative ultrasonography through the retroperitoneum, the retroperitoneum was dissected directly above the tumor. We used an ultrasonic scalpel to divide the hepatic parenchyma, and a Biclamp for hemostasis. The blood vessel was clamped using titanic clips, and the specimen was extracted using a retrieval bag following resection. A drainage tube was placed after completing meticulous hemostasis. Closure of the retroperitoneum was performed using a conventional suture method.
RESULTS
The total operation time was 249 min, with an estimated blood loss of 30 mL. The final histopathological diagnosis showed a 3.0 × 2.2 × 2.0 cm-sized hepatocellular carcinoma. The patient was discharged on postoperative day 6 without any complications.
CONCLUSION
Lesions located in segment VI/VII or close to the adrenal gland were generally considered difficult for minimally invasive resection. Under these circumstances, a retroperitoneal laparoscopic hepatectomy might be a more suitable option as it is a safe, effective and complementary approach to standard minimally invasive technology for the resection of small hepatic tumors in these special locations of the liver.
Topics: Male; Humans; Middle Aged; Carcinoma, Hepatocellular; Liver Neoplasms; Retroperitoneal Space; Hepatectomy; Laparoscopy
PubMed: 37210450
DOI: 10.1245/s10434-023-13645-7 -
Journal of Medical Case Reports Jun 2024Urinothorax and urinoma are rare complications of obstructive uropathy. They might occur due to persistent high back pressure on the renal parenchyma. Urinothorax...
Right perirenal urinoma and urinothorax in an infant after neonatal ablation of posterior urethral valve: A rare complication diagnosed by pleural aspiration and treated with perinephric drainage: a case report.
OBJECTIVE
Urinothorax and urinoma are rare complications of obstructive uropathy. They might occur due to persistent high back pressure on the renal parenchyma. Urinothorax usually arises while the obstruction exists; in contrast to our case, the child presented after being operated on. He had falsely high creatinine before the operation, which was later explained by creatinine recirculation.
CLINICAL PRESENTATION AND INTERVENTION
We are reporting an uncommon case of late presentation of ruptured urinoma in a 2-month-old Kuwaiti male. It led to urinothorax/uroperitoneum that caused respiratory distress and was associated with creatinine recirculation, requiring retroperitoneal perinephric catheter insertion. The child had recovered and was discharged home.
CONCLUSION
A high index of suspicion is required to diagnose urinothorax, especially in patients with a history of obstructive uropathy. Aspiration of the pleural effusion will guide you to reach the diagnosis. Creatinine recirculation is rarely described in the literature. Having a patient with urinothorax/uroperitoneum should raise the suspicion of falsely elevated creatinine levels.
Topics: Humans; Urinoma; Male; Infant; Drainage; Pleural Effusion; Creatinine; Urethra; Treatment Outcome; Urethral Obstruction
PubMed: 38943217
DOI: 10.1186/s13256-024-04634-9 -
Pathology Aug 2023
Topics: Humans; Histiocytosis, Sinus; Immunoglobulin G; Plasma Cells; Biopsy; Lymph Nodes
PubMed: 36925344
DOI: 10.1016/j.pathol.2022.12.351 -
International Journal of Surgery... Apr 2024At our center, surgical modifications to the conventional kidney transplant technique were developed with two goals in mind: to minimize the risk of developing...
BACKGROUND
At our center, surgical modifications to the conventional kidney transplant technique were developed with two goals in mind: to minimize the risk of developing post-transplant urologic/vascular/other surgical complications, and to simultaneously eliminate the need for initial ureteral stent placement and surgical drainage.
METHODS
Here, we describe these modifications along with(what we believe are) their advantages over the conventional technique: creating an abdominal flap for easier abdominal closure(reflecting the parietal peritoneum from the abdominal wall), mobilizing the bladder before transplant(creating more space for bladder dissection, allowing it to move upward during abdominal wall closure), minimizing the dissection of iliac vessels to only anterior lymphatic tissue(attempting to minimize the incidence of fluid collections), using plastic arterial vascular bulldog clamps(causing less trauma to the iliac artery), performing vascular anastomosis of the renal artery first(making it easier for the surgeon to perform this anastomoses), creating longer ureteral spatulation, and inclusion of bladder mucosa along with some detrusor muscle layer in performing the ureteral anastomosis(attempting to minimize the incidence of urologic complications). Of note, no initial ureteral stent placement or surgical drainage was used. We report our experience during the first 12mo post-transplant of a single transplant surgeon who used each of these modifications among 707 consecutive recipients of kidney-alone transplants at our center since 2014.
RESULTS
During the first 12mo post-transplant, 2.3%(16/707) of patients developed a urologic complication; only 1.0%(7/707) required surgical repair of their original ureteroneocystostomy. Additionally, 2.7%(19/707) developed a vascular complication; 8.8%(62/707) developed some other type of surgical complication(wound complication, lymphocele development, or development of a peri-renal hematoma or peri-renal collection). These overall results were clearly advantageous when compared with other studies.
CONCLUSION
We believe that this modified kidney transplant technique clearly helped in reducing post-transplant risks of developing urologic/vascular/other surgical complications. Importantly, these results were achieved without initial ureteral stent placement or surgical drainage.
PubMed: 38597387
DOI: 10.1097/JS9.0000000000001457 -
Nephron 2024Kidney biopsy is the cornerstone for the diagnosis of glomerular diseases and to guide treatment. Percutaneous ultrasound-guided kidney biopsy is currently the gold... (Observational Study)
Observational Study
INTRODUCTION
Kidney biopsy is the cornerstone for the diagnosis of glomerular diseases and to guide treatment. Percutaneous ultrasound-guided kidney biopsy is currently the gold standard to obtain cortical specimens. However, in cases where ultrasound-guided kidney biopsy is not deemed safe (obese patients, deep kidneys, or kidneys with a complicated anatomy), CT-guided kidney biopsy could be a convenient alternative to obtain renal tissue samples. The aim of this study was to describe the diagnostic yield and complications of CT-guided kidney biopsies in patients with glomerular diseases that were previously discarded for ultrasound-guided kidney biopsy.
MATERIAL AND METHODS
We performed a retrospective, single-center, observational study including patients who underwent CT-guided native kidney biopsies in our center after being contraindicated for ultrasound-guided biopsy. Patients' records were reviewed retrieving baseline characteristics and pre-biopsy clinical, laboratory parameters and concomitant medication. The biopsy needle gauge, site of puncture, and number of needle passes were recorded. The diagnostic yield was evaluated by the number of glomeruli obtained, the rate of specimens that were adequate to reach diagnosis, and the number of biopsies that had to be repeated. Complications were defined as minor (hypotension, hematoma) and major (arteriovenous fistulae, major bleeding requiring embolization, or nephrectomy). The diagnostic yield and complications were compared to ultrasound-guided native kidney biopsies performed during the same period.
RESULTS
56 CT-guided native kidney biopsies were performed during the study period. The number of glomeruli obtained per patient was 11.5 ± 6.3, which was inferior to that obtained from ultrasound-guided biopsies (14.08 ± 8.47, p < 0.05). However, the rate of specimens that were adequate to reach a diagnosis was similar (92.9% vs. 90.8%, p = 0.437). The number of needle passes was higher in CT-guided kidney biopsies (2.0 ± 0.7 vs. 1.7 ± 0.5, p < 0.05), as well as the incidence of post-biopsy perirenal asymptomatic hematomas (66.1% vs. 24.5%, p < 0.01). There were no significant differences in other post-biopsy minor complications (1.8% vs. 2.5%, p = 0.621). There were no major complications after CT-guided kidney biopsies.
CONCLUSIONS
CT-guided percutaneous kidney biopsy is a valid alternative for the diagnosis of glomerular diseases in patients with special characteristics such as obesity or deep kidneys that contraindicate ultrasound-guided biopsy. In this population, CT-guided kidney biopsies are safe and provide a high diagnostic yield, reaching a diagnosis in >90% of patients that had been previously discarded for ultrasound-guided biopsy.
Topics: Humans; Retrospective Studies; Kidney; Kidney Diseases; Image-Guided Biopsy; Tomography, X-Ray Computed
PubMed: 37429269
DOI: 10.1159/000531378