Erdheim-Chester disease of the breast: a case report and review of the literature

Erdheim-Chester disease (ECD) is a rare xanthomatous non-Langerhans cell histiocytosis which involves the marrow space of the long bones. Extraosseous sites most commonly affected include the eyes, lungs, pituitary glands, and kidneys. We report the case of a 49-year-old woman who presented with palpable breast nodules, followed by progressive soft tissue and subcutaneous disease, and involvement of the long bones, dysarthria, and dysphagia. The histopathologic features and skeletal radiography findings are consistent with ECD. This case represents an unusual presentation, which led to delayed diagnosis, as ECD of the breast has been rarely reported. ECD should be considered in the differential diagnosis of histiocytoid breast lesions, including fat necrosis and histiocytoid invasive mammary carcinoma.     

A case of Erdheim-Chester disease with spinal cord compression and sphenoid sinus involvement

Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis. It is an inflammatory disorder associated with BRAF V600E mutation in 50% of cases. This multisystem disease is rarely associated with spinal involvement. Neurological involvement is an independent predictive factor of poor prognosis. The diagnosis is histopathological based on CD68-positive and CD1A-negative histiocytes. Treatment with interferon-alpha is an independent predictor of survival in Erdheim-Chester disease and vemurafenib has also been shown to be effective for BRAF V600E mutation. We report a clinical case of a 51-year-old patient with multiple and rare locations of Erdheim-Chester disease, particularly at the sphenoid sinus.     

Retroperitoneal infiltration as the first sign of Erdheim-Chester disease

Abstract:   We report a case of an elderly man with bladder cancer, in whom the first manifestation of Erdheim-Chester disease was retroperitoneal infiltration detected during routine follow-up. The disease was diagnosed on the basis of histology and immunochemistry findings (presence of histiocytes) and of imaging findings (plain radiography, computed tomography, magnetic resonance imaging, and bone scintigraphy). The differential diagnosis with respect to other causes of retroperitoneal infiltration is discussed.     

小儿重复肾并积水28例临床分析

目的　探讨小儿重复肾并积水的诊断及治疗。方法　2 8例小儿重复肾并积水中,2 6例为单纯重复肾积水,1例为重复肾及下肾积水,1例为下肾积水,2 7例行重复肾重复输尿管切除术,1例行下肾离断性肾盂输尿管成形术。结果　所有病例术后恢复良好。结论　重复肾积水多由输尿管囊肿所致,下肾积水术前要了解是输尿管反流还是梗阻,才能决定手术,不要轻易切除下肾。     

Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein

Erdheim-Chester disease is a rare non-langerhans systemic histiocytosis of unknown origin, associated with bone diseases and severe visceral complications. Therapies have been disappointing. A recombinant form of interleukin-1 receptor antagonist (anakinra) has been used in a few cases when usual treatment fails. We report a new case of successfully interleukin-1 receptor antagonist treatment in Erdheim-Chester disease.     

Renal function outcome in unilateral hydronephrosis in newborn pigs. II. Function and volume of contralateral kidneys

PURPOSE: We evaluated the compensatory response of contralateral kidney growth and function in pigs with unilateral hydronephrosis. MATERIALS AND METHODS: Unilateral partial ureteral obstruction causing severe hydronephrosis was induced at age 2 days in 12 piglets, while 10 underwent sham operation. At ages 4, 12 and 24 weeks single kidney function was assessed using 99mtechnetium diethylenetriaminepentaacetic acid differential uptake on renography combined with the glomerular filtration rate estimated from the plasma clearance of 99mtechnetium diethylenetriaminepentaacetic acid. Kidney size was measured in parallel by magnetic resonance imaging. RESULTS: At 4 weeks the glomerular filtration rate and volume of the contralateral kidneys did not differ from those in controls, although obstructed kidney function was significantly decreased. At 12 weeks the mean glomerular filtration rate plus or minus standard error of mean of the contralateral kidneys significantly increased to 1.60 +/- 0.11 versus 1.33 +/- 0.11 ml. per minute per kg. (p <0. 05), whereas kidney volume did not differ from that in sham operated controls. At 24 weeks the glomerular filtration rate and volume of the contralateral kidneys did not differ from those in controls. Glomerular filtration rate and volume of the contralateral kidneys did not correlate at 4 weeks but they correlated at 12 and 24 weeks (r = 0.94 and 0.89, respectively). CONCLUSIONS: Initially kidneys contralateral to obstructed kidneys with decreased function had no increased growth or function. Furthermore, function and volume of the contralateral kidneys were not associated at the early age. Thus, the results of our study imply that determining the size (growth) or function of the contralateral kidney at an early age does not predict function decrease in a partially obstructed kidney in this pig model.     

Cognitive outcome following kidney transplantation.

BACKGROUND: While a handful of studies have assessed cognition in kidney transplant (TX) recipients, the neuropsychological presentation of this population is not yet clear. Kidney transplantation typically leads to improvement of metabolic factors associated with chronic kidney disease (CKD). However, comorbid diseases independently linked with cognitive compromise often persist, and for this reason, cognitive difficulties may still be present following transplantation. METHODS: In this cross-sectional study, we assessed cognition in 42 kidney TX recipients, 45 outpatients with pre-dialysis CKD and 49 healthy controls using measures of verbal learning and memory and executive functioning. RESULTS: Findings indicated that TX and CKD patients demonstrated significantly worse verbal learning and memory in comparison to controls. While both CKD and TX patients exhibited significantly worse performance than controls on a response inhibition measure, only CKD patients performed significantly worse on a set-shifting task. CONCLUSIONS: Results suggest that, in comparison to controls, verbal memory and executive functioning skills are worse in both CKD and TX patients. Further research is needed to determine the etiology and extent of cognitive compromise, as well as to assess the clinical implications of these findings.     

Clinical outcome of children with chronic kidney disease in a pre-dialysis interdisciplinary program

The purpose of this retrospective cohort study was to describe the outcome of 107 patients with chronic kidney disease (CKD) admitted to a pre-dialysis interdisciplinary management program from 1990 to 2006. The events of interest were progression to CKD stage 5 (renal survival), patient survival, hypertension, and somatic growth. Survival was studied by the Kaplan–Meier method. Patients were classified into four groups according to their primary renal disease: congenital nephro-uropathies; glomerular diseases; cystic disease, and miscellaneous. Median follow-up time was 94 months [Interquartile (IQ) range 38–145]. The probability of reaching CKD stage 5 was estimated to be 36% by 5 years after admission. As a whole, the mean estimated glomerular filtration rate (GFR) decrease per year was 5.8 ml/min per 1.73 m² body surface area [standard deviation (SD) 12.4]. The glomerular diseases group showed a median rate of GFR deterioration of 10 ml/min per 1.73 m² per year (IQ range −24 to −5.7), whereas the median rate of GFR deterioration for the groups with cystic diseases, congenital nephro-uropathies, and miscellanea were 2.5 ml/min (IQ range −10 to +0.34), 2.2 ml/min (IQ range −5.0 to −0.52), and 0.36 ml/min (IQ range −2.5 to +2.6), respectively (P < 0.001). The results of this study support the view that children and adolescents with glomerular diseases present a faster deterioration of renal function. Therefore, patients with glomerular diseases need to be referred early to a pediatric nephrology center so that suboptimal pre-dialysis care might possibly be avoided.     

Glomerulocystic disease: unilateral involvement of a horseshoe kidney and in trisomy 18

Two occurrences of glomerulocystic kidney disease (GCD) in children younger than 1 year are described. One child was 3 months old with trisomy 18; the other child was 6 months old with GCD localized to one side of a horseshoe kidney. Lectin and immunohistochemical studies in tissue from the second child suggested that the entire nephron may be affected in GCD. There may also be overlap of morphological features between GCD and early stages of autosomal dominant polycystic kidneys.     

Early kidney transplantation improves neurocognitive outcome in patients with severe congenital chronic kidney disease

Renal replacement therapy has become available for the majority of patients suffering from severe congenital chronic kidney disease (CKD). Data on the long‐term neurocognitive outcome and the impact of early kidney transplantation (KTx) in this setting is unclear. Neurocognitive outcomes in 15 patients (11 male) with isolated congenital CKD (stage 3–5) requiring KTx at a mean age of 2.8 ± 1.3 were assessed at a mean age of 8.3 ± 1.4 years. Patients underwent neurological examination and testing for neuromotor and neurocognitive function using three independent tests. Pre‐emptive KTx was performed in six patients, and nine patients were dialyzed prior to KTx for a mean period of 11.1 ± 8.6 months. Neuromotor function was abnormal in 8/15 patients. HAWIK‐III showed a global intelligence quotient (IQ) of 93.5 ± 11.4 (P = 0.05) due to a significantly reduced performance IQ of 89.1 ± 11.3 (P < 0.01). In three patients, the global IQ was clinically significantly reduced by >1 SD to <85. In patients with neuromotor dysfunction, performance IQ was lower than in patients with normal neuromotor function (83.8 ± 10.2 vs. 96.2 ± 9.0, P = 0.04). Time on dialysis was inversely correlated to verbal IQ (r = 0.78, P = 0.02). Pre‐emptive KTx and duration of dialysis treatment <3 months was associated with superior neurocognitive outcome. Early (pre‐emptive) KTx results in superior long‐term neurocognitive outcome in children with severe congenital CKD.     

A retrospective analysis of ureteropelvic junction obstructions in patients with horseshoe kidney

BackgroundUreteropelvic junction obstruction (UPJO) is often encountered in patients with a horseshoe kidney (HSK) and may require surgical intervention. This study retrospectively investigated obstruction causes in HSK patients with UPJOs to determine the most suitable surgical method.MethodsTwenty HSK patients with UPJO who underwent pyeloplasty between July 2000 and June 2020 and were followed-up for more than six months in our institution were included in the study. The clinical characteristics, obstruction causes, and surgical outcomes were analyzed.ResultsThe median age at the time of the operation was 4.1 years [interquartile range (IQR): 1.8–10.6]. Hydronephrosis (HN) was found prenatally in 5 patients (25.0%). Pyeloplasty was performed by open, laparoscopic, and robotic techniques in 6, 10, and 4 patients, respectively. Sixteen patients (80.0%) had high ureteral insertion. Twelve patients (60.0%) had crossing vessels, and eight had a high ureteral insertion and crossing vessels. The median follow-up duration was 4.0 years (IQR: 1.8–8.9); no patient required additional surgery. The median differential renal function was 38.0% (IQR: 16.9–43.0%) preoperatively and 38.0% (IQR: 13.3–48.2%) postoperatively.ConclusionsUPJOs in HSKs were primarily caused by a high ureteral insertion and crossing vessels. Dismembered pyeloplasty was successfully performed in all surgical modalities such as the open, laparoscopic, and robotic approaches. Attention must be given to patients with HSKs, even in those without HN, to avoid UPJO development.     

Natural history of neonatal reflux associated with prenatal hydronephrosis: long-term results of a prospective study

PURPOSE: We have previously reported on patients with neonatal vesicoureteral reflux followed conservatively. The current study is a long-term followup of our prospective expectant management protocol for the overall cohort. MATERIALS AND METHODS: Between 1993 and 1998, 31 of 260 patients with prenatal hydronephrosis had vesicoureteral reflux and were followed prospectively. Outcome analysis was done on 25 patients, excluding 6 who underwent surgery, with the end point of complete resolution or improvement of reflux using our previously reported Kaplan-Meier survival curve, urinary tract infection, dysfunctional voiding, and changes in renal function or growth, somatic growth and hypertension. RESULTS: Of the 25 cases reflux was grades I to V in 7%, 20%, 34%, 16% and 23%, respectively. Reflux resolved in 13 patients (52%) and improved in 6 (24%). Grades I to V disease resolved in 100%, 77%, 53%, 28% and 40% of refluxing units, respectively. The improvement rate for grades III to V reflux was 13%, 14% and 30%, respectively. Breakthrough urinary tract infection occurred in 4 patients with grades IV and V reflux, and dysfunctional voiding developed in 5. Followup renal scans showed 19% and 17% decreased differential function in 2 units without new scars. There was no difference in renal length in patients with resolved versus persistent reflux or low versus high grade reflux. All patients had normal somatic growth at the 4-year followup and none had hypertension. CONCLUSIONS: Expectant management was effective in the majority of cases and associated with a low urinary tract infection rate. Neonatal vesicoureteral reflux resolved or improved in 76% of our patients by age 4 years without somatic growth retardation or hypertension. High grade reflux resolved or improved in 59% of the units and showed normal renal growth with expectant management.     

Analysis of long-term renal outcome in patients after acute kidney injury

Objective To follow up the long-term prognosis of acute kidney injury (AKI) patients with normal basic renal function, and to further identify the clinical features as well as risk factors associated with the prognosis of AKI patients. Methods Clinical date of 166 patients who occurred AKI episode during hospitalization from Jan 1 2011 to Dec 31 2014 in The First Affiliated Hospital of Fujian Medical University were retrospectively analyzed. All these patients had normal basic renal function and had follow-up of more than two years after discharge. According to their renal function after two years, patients were divided into recover and non-recover group. The clinical features and risk factors associated with the prognosis of AKI patients were identified using multivariate logistic regression, and the proportion of renal function progression was calculated during follow-up period. Results One hundred and sixty-six patients were enrolled in this observational study, including 114 male, 52 female with an average age of 58.1±16.6. Eighty-seven patients were AKI stage 1, 39 AKI stage 2, and 40 AKI stage 3. Thirty-seven patients were caused by pre-renal factors, 113 patients by renal causes and 16 patients by post-renal causes. Renal function when discharged (P=0.002, OR=2.980) and infection (P=0.003, OR=2.786) were the risk factors of failing to restore after two years. Eighty-four patients' renal function returned to normal when discharged, but the number of patients whose renal function progressed to CKD 3 stage and even worse 1 year and two years later were 12 (14.3%) and 20 (23.8%) respectively. Fifty-four patients were diagnosed as partial recovery and 28 patients as non-recovery when discharged. One year later 22 (40.7%) and 12 (42.9%) patients' renal function progressed to CKD 3 stage and more, while those numbers became 28 (51.9%) and 16 (57.1%) two years later. Conclusions The risk factors of AKI long-term outcome include unrecovered renal function when discharged and infection. After AKI episode, even with fully recovered renal function, patients are still possible to progress to CKD, highlighting the importance of follow-up observation.     

成人重复肾畸形并肾积水的诊疗分析

目的分析总结成人重复肾畸形并肾积水的诊疗方案。方法回顾性分析40例成人重复肾畸形并肾积水患者的临床资料,其中男性11例,女性29例,年龄18～77岁。并发重度肾积水29例,轻度肾积水11例。结果 29例重度肾积水患者均行肾部分切除术,其中开放手术23例,腹腔镜手术6例;11例轻度肾积水患者中5例行输尿管膀胱再植术,5例行输尿管囊肿电切术,1例行肾盂成形术。40例患者中3例出现术后并发症。结论成人重复肾畸形并重度肾积水者应行肾部分切除术,腹腔镜较之开放手术具有创伤小、出血少、恢复快等优点;轻度肾积水者可通过解除膀胱输尿管返流、输尿管口囊肿、肾盂输尿管连接部梗阻等改善肾功能。     

后腹腔镜术切除无功能积水肾的疗效观察

目的：探讨后腹腔镜下切除无功能积水肾的可行性和安全性及规避手术风险的方法。方法：对62例积水无功能肾患者行后腹腔镜积水无功能肾切除术。术前常规行肾脏CT平扫及增强检奄。利用PACS系统仔细阅片,了解肾动脉分支及走向。然后建立腹膜后腔隙,参照解剖标志充分显露。肾蒂血管,用Hem-o—lok夹闭肾蒂血管后切断,分离切除患肾,留置腹膜后引流管,并统计手术时间、术中m血量和术中术后并发症,观察手术效果。结果：62例患者手术均获得成功,手术时间为50～180min,平均为130min。术中出血10～100m1．平均37ml。术中损伤腹膜3例,胸膜1例,未发现血管损伤、腹腔脏器损伤等并发症。引流管于术后2～3天拔除,术后住院5～10天,平均6．5天。结论：后腹腔镜下积水无功能肾切除术安全可行,术中通过辨认解剖标志结扎肾蒂血管和沿正确的平面游离患肾是手术成功的关键。     

The long-term outcome of tacrolimus in cadaveric kidney transplantation from non-heart beating donors

Tacrolimus (Tac), developed in 1990, has been applied as an immunosuppressive agent for liver, heart, and kidney transplantation and is known to have more powerful immunosuppressive effects than cyclosporine (CyA). To evaluate the efficacy of Tac in cadaveric kidney transplants from non-heart beating donors, we present the long-term outcome of patients receiving kidneys with ischemic damage, and compared it with that of CyA. Between July 1990 and December 2000, 55 patients with end-stage renal disease received kidneys from non-heart beating donors (Maastrichy category 3) and were treated with Tac and steroid immunosuppressive therapy. During the same period, we also performed 137 non-heart beating cadaveric renal transplants treated with CyA-based immunosuppressive therapy. The patient survival rate was 98% at 1 yr and 96% at 3-10 yr in the Tac group, and 97% at 1-3 yr, 93% at 5 yr and 85% at 10 yr in the CyA group. The graft survival rate was 91% at 1 yr, 80% at 3 yr, 63% at 5 yr and 34% at 10 yr in the Tac group, and 88% at 1 yr, 75% at 3 yr, 63% at 5 yr and 49% at 10 yr in the CyA group. There was no significant difference in either patient or graft survival rates between the two groups. Acute early rejection in the Tac group was less than that in the CyA group but acute tubular necrosis was the same in both groups. This indicates that Tac is available for cadaveric kidney transplants from non-heart beating donors. In conclusion, Tac is available as an immunosuppressive agent even for kidney transplants from non-heart beating donors.     

Long-term outcome analysis of Starr plication for primary obstructive megaureters

PURPOSE: The Starr technique of tapering megaureters was first reported in 1979. Although this method of ureteral plication is well known, to our knowledge there are no clinical studies regarding outcomes. We report the first long-term outcome results with the Starr technique for primary obstructive megaureters. MATERIALS AND METHODS: Three girls and 10 boys with a total of 16 primary obstructive megaureters (3 bilateral) underwent reimplantation with Starr plication between 1988 and 2000. Baseline and followup renal function (average followup 6.2 years) was determined with renal scan and/or 24-hour urinary creatinine clearance. Average age at operation was 5.6 years (range 2 months to 13 years). All ureters were plicated using the Starr technique with interrupted polydioxanone sutures performed by a single surgeon (CEH). Reimplantation methods were the Hendren technique in 7 and Politano-Leadbetter in 9. RESULTS: No ureter demonstrated obstruction postoperatively. One ureter refluxed, which resolved with subureteral collagen injection. Seven patients had mean preoperative and postoperative creatinine clearance +/- SD 72.9 +/- 14.8 and 102.1 +/- 10.9 cc per minute, respectively (p <0.05). Six patients underwent preoperative and postoperative renal scans. Average preoperative relative renal function on renal scan in the kidney with a megaureter was 53.0% +/- 6.7% (range 37% to 84%). Long-term followup (average 4.1 years) renal scan revealed a relative function of 53.3% +/- 9.2% (range 37% to 100%). CONCLUSIONS: Our data demonstrate that Starr plication is a safe procedure that provides long-term stabilization of renal function in the management of primary obstructive megaureter.