Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles. METHODS: A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber. RESULTS: The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months. CONCLUSION: Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.

[Stanford Type A Acute Aortic Dissection Associated with Polycystic Kidney Disease].

Whereas cerebral aneurysm is a well-known consequence of autosomal dominant polycystic kidney disease (ADPKD), acute aortic dissection has been rarely reported. A patient was a 44-year-old male with a diagnosis of ADPKD, who had previously undergone transcatheter arterial embolization for a renal cyst hemorrhage. He presented with sudden onset of back pain, which got worse at emergency service. Contrast-enhanced computed tomography (CT) revealed Stanford type A acute aortic dissection. The patient subsequently underwent partial aortic arch replacement with a vascular graft under circulatory arrest. His postoperative course was complicated by pneumonia and required ventilation support for a week. Peak creatinine level was 3.28 mg/dl, but hemodialysis was not required. Patients with ADPKD should be considered a high-risk cohort of aortic dissection.

Effect of ultra-mini percutaneous nephrolithotomy and ShuoTong ureteroscopy on the stress response, inflammatory indices, and urokinase level in patients with polycystic kidney disease complicated with renal calculus.

This study aimed to explore the effects of ultra-mini percutaneous nephrolithotomy (UMP) combined with ShuoTong ureteroscopy on the stress response, inflammation indicators and urokinase levels in patients with polycystic kidney disease and kidney stones. In this study, 42 patients with polycystic kidney disease and kidney stones diagnosed and treated in our hospital from February 2018 to February 2021 were selected as the research objects. They were randomly divided into the control group and the study group, with 21 cases in each group, and the control group adopted Ultra-mini percutaneous nephrolithotomy treatment; the study group was combined with ShuoTong ureteroscopy on the basis of the control group, and compared and analyzed the stress response, inflammation indexes, urokinase level, renal function, complications and stone clearance rate of the two groups of patients. After treatment, the average operation time, channel establishment time, hemoglobin decline, number of puncture channels, and hospital stay in the study group were significantly shorter than those in the control group (P<0.05); after treatment, the reduction in CRP and PCT in the study group was significantly higher than that in the control group The increase of Ang I and Ang II in the control group was significantly lower than that in the control group (P<0.05); the improvement of PGE2, NO, and LPO levels in the study group was significantly higher than that in the control group after treatment (P<0.05); the study group TH, Cys- The levels of C and ß2-MG were significantly lower than those of the control group; the UK levels of the study group were significantly lower than those of the control group (P<0.05); the complication rate of 14.29% in the study group after treatment was significantly lower than that of the control group 33.33%; the study group The stone clearance rate of 95.24% was significantly higher than that of the control group 80.95% (P<0.05). In general, UMP combined with ShuoTong ureteroscopy is used to treat polycystic kidney with kidney stones, accurately determine the tip position of the needle sheath, ensure that the needle sheath enters the collection system to adjust its position, reduce patient stress and inflammation, improve safety and feasibility, and is worthy of clinical practice Promote applications.

Recurrent urinary tract infections in kidney transplant patients with polycystic kidneys.

INTRODUCTION: Kidney transplantation is now a routine method used to treat end-stage renal disease. About 10 % of kidney transplant patients are patients with autosomal dominant polycystic kidney disease (ADPKD). After successful kidney transplantation, recurrent urinary tract infections also occur in initially asymptomatic patients. MATERIAL AND METHODS: The group included 320 patients after kidney transplantation. We compared patients with ADPKD versus patients without ADPKD in terms of the presence of recurrent urinary tract infections. THE RESULTS: The incidence of recurrent urinary tract infections (rIMCs) was 18% in patients without ADPKD and 48% in patients without ADPKD. Nephrectomy after kidney transplantation due to recurrent urinary tract infections eliminated this infectious complication (in 86% of patients). CONCLUSION: Kidney transplant patients with ADPKD have a significantly higher incidence of recurrent urinary tract infections. Removal of polycystic kidneys is a suitable solution if the infection persists.

[Bilateral laparoscopic nephrectomy for polycystic kidney disease].

A clinical case of surgical treatment of a patient with autosomal dominant type of polycystic kidney disease, stage 5 of chronic kidney disease and secondary arterial hypertension is presented in the article. The technique of single-stage bilateral laparoscopic nephrectomy, patented by the authors, is described. The practicability and safety of a simultaneous bilateral procedures was demonstrated, as well as the advantage of laparoscopic access for this type of surgical interventions. The successful and prompt procedure allowed the patient to undergone to allotransplantation of a cadaveric kidney as soon as possible.

Liver and kidney transplantation in polycystic liver and kidney disease. / Trasplante hepático y renal en la enfermedad poliquística hepatorrenal.

OBJECTIVE: To evaluate the results of isolated liver and combined liver and kidney transplantation in a retrospective series of 32 patients with hepatorenal liver and kidney disease. MATERIALS AND METHODS: A retrospective observational study that enrolled patients with polycystic liver disease (PLD) and polycystic liver and kidney disease (PLKD) who were evaluated for transplantation between January 1999 and December 2019 at Hospital Clínic de Barcelona [Clinical Hospital of Barcelona]. RESULTS: We included a total of 53 patients enrolled, 32 (60.3%) had indication for transplantation, of which 12 received a single liver transplant and 20 received a double liver and kidney transplant. The mean age was 52 years and 83.9% of the recipients were women. The main indication for liver transplantation was disabling symptomatic hepatomegaly (93.5%). Among the postoperative complications, in the combined liver and kidney transplant group, hepatic artery thrombosis in one case and renal artery thrombosis in other were detected. In both groups there was one case of inferior vena cava lesion. Three patients presented acute cellular rejection responding to corticosteroids and one presented humoral rejection which was treated with plasmapheresis. During the follow-up period of 80 (27-121) months, the liver transplant survival rate was 100% and the kidney transplant survival rate was 90%. Two patients in the combined liver and kidney transplant group died (one due to cardiovascular causes and the other due to intestinal adenocarcinoma). CONCLUSIONS: Isolated liver transplantation or combined liver and kidney transplantation in selected patients with polycystic disease yields excellent results, with few complications, very good transplant survival and excellent patient survival (93.8%).

Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation.

The combination of pediatric multivisceral and kidney transplantation leads to additional recipient risks due to the number of anastomoses and to the small sizes of donor structures. The inclusion of donor kidneys, ureters, and a bladder patch en bloc with multivisceral organs decreases the number and complexity of anastomoses and has not yet been reported. Four patients were transplanted in this fashion; three underwent multivisceral-kidney and one underwent liver-kidney transplantation. The first patient was a 3-year-old male with polycystic kidney disease and congenital hepatic fibrosis. The second was a 7-year-old female with complications from necrotizing enterocolitis. The third was a 12-month-old male with megacystis microcolon intestinal hypoperistalsis syndrome and secondary hydronephrosis, and the fourth was a 3-year-old male with multiple intestinal resections secondary to incarcerated hernia. The third patient developed a right ureteral stenosis with an intact bladder patch. The fourth child expired from maintained abdominal sepsis. The first 3 patients maintained normal graft function. There were no cases of thrombosis, arterial stenosis, or urinary leakages. These reported cases demonstrate that small pediatric en bloc transplantation of the multivisceral organs and dual kidneys with a bladder patch anastomosis is a feasible and less complex alternative to the standard procedure.

Budd-Chiari Syndrome after Bilateral Nephrectomy for Polycystic Kidney Disease in a Kidney Transplant Recipient.

We report a rare case of Budd-Chiari syndrome (BCS) as a postoperative complication after bilateral nephrectomy in a kidney transplant recipient with polycystic liver and kidneys. Contrast-enhanced computed tomography of the abdomen showed a narrowed inferior vena cava, compressed by the polycystic liver that moved downwards after nephrectomy. A stenting angioplasty was performed, resulting in remarkable clinical improvement. This case highlights the need for careful evaluation of polycystic kidneys and their anatomic relationship with the liver before nephrectomy, as well as for considering BCS as a differential diagnosis in similar cases.

Kidney transplantation in patients with inflammatory bowel diseases (IBD): analysis of transplantation outcome and IBD activity.

Inflammatory bowel diseases (IBD) is a systemic disorder with possible renal involvement, yet data regarding the outcome of kidney transplantation (KT) in those patients, and IBD course post KT, are scarce. In this retrospective analysis, we studied the outcome of 12 IBD kidney recipients (seven Crohn's disease, five ulcerative colitis; primary kidney disease was IgA nephropathy in five, polycystic disease in four), compared to two control groups: matched controls and a cohort of recipients with similar kidney disease. During a follow-up period of 60.1 (11.0-76.6) months (median, interquartile range), estimated 5-year survival was 80.8 vs. 96.8%, with and without IBD, respectively (P = 0.001). Risk of death with a functioning graft was higher with IBD (HR = 1.441, P = 0.048), and with increased age (HR = 1.109, P = 0.05). Late rehospitalization rate was higher in IBD [incidence rate ratio = 1.168, P = 0.030], as well as rate of hospitalization related to infection [1.42, P = 0.037]. All patients that were in remission before KT, remission was maintained. Patients that were transplanted with mild or moderate disease remained stable or improved with Infliximab or Adalimumab treatment. In conclusion, IBD is associated with an increased risk of mortality, hospitalization because of infection and late rehospitalization after KT. Clinical course of IBD is stable after KT.

Kidney transplant recipients with polycystic kidney disease have a lower risk of post-transplant BK infection than those with end-stage renal disease due to other causes.

BACKGROUND: Polyomavirus-associated nephropathy is associated with high risk of kidney allograft loss. Whether the cause of native end-stage renal disease influences the risk of BK infection is unclear. METHODS: A retrospective, single-center study of 2741 adult kidney transplant recipients between 1994 and 2014 was performed. Recipients had end-stage renal disease due to polycystic kidney disease (PKD, n = 549), diabetes mellitus (DM, n = 947), hypertension (HTN, n = 442), or glomerulonephritis (GN, n = 803). RESULTS: A total of 327 recipients (12%) developed post-transplant BK viremia over a median follow-up time of 5 years. The incidence rate of BK viremia was lowest in patients with PKD (1.46 per 100 person-years) compared to other causes of ESRD (DM = 2.06, HTN = 2.65, and GN = 2.01 per 100 person-years). A diagnosis of PKD was associated with a lower risk of post-transplant BK viremia (adjusted HR (95% CI) = 0.67 (0.48-0.95), P = 0.02). BK nephropathy was significantly less common in patients with PKD (0.21 per 100 person-years) compared to those with HTN (0.80 per 100 person-years, P ≤ 0.001). Among patients with PKD, the risk of BK viremia was lower in patients with nephrectomy, compared to those without nephrectomy (adjusted HR (95% CI) = 0.42 (0.19-0.92), P < 0.05). CONCLUSION: ESRD due to PKD is associated with a lower risk of post-transplant BK infection. The renal tubular epithelial cells in PKD are unique; they are in a proliferative but non-differentiated state. Whether this characteristic of renal tubular epithelial cells alters the BK viral reservoir or replication in PKD patients warrants further study.

Complete supine percutaneous nephrolithotomy with GoPro®. Ten steps for success.

OBJECTIVE: To show a video of a complete supine Percutaneous Nephrolithotomy (csPCNL) performed for the treatment of a staghorn calculus, from the surgeon's point of view. The procedure was recorded with a GoPro® camera, demonstrating the ten essential steps for a successful procedure. MATERIALS AND METHODS: The patient was a 38 years-old woman with 2.4cm of left kidney lower pole stone burden who presented with 3 months of lumbar pain and recurrent urinary tract infections. She had a previous diagnosis of polycystic kidney disease and chronic renal failure stage 2. CT scan showed two 1.2cm stones in the lower pole (Guy's Stone Score 2). She had a previous ipsilateral double J insertion due to an obstructive pyelonephritis. The csPCNL was uneventful with a single access in the lower pole. The surgeon had a Full HD GoPro Hero 4 Session® camera mounted on his head, controlled by the surgical team with a remote control. All of the mains steps were recorded. Informed consent was obtained prior to the procedure. RESULTS: The surgical time was 90 minutes. Hemoglobin drop was 0.5g/dL. A post-operative CT scan was stone-free. The patient was discharged 36 hours after surgery. The camera worked properly and didn't cause pain or muscle discomfort to the surgeon. The quality of the recorded movie was excellent. CONCLUSION: GoPro® camera proved to be a very interesting tool to document surgeries without interfering with the procedure and with great educational potential. More studies should be conducted to evaluate the role of this equipment.

Identification of occult active infection using PET-CT in a combined liver-kidney transplant candidate.

This case describes a patient being considered for combined liver-kidney transplantation for Caroli's disease with a failed renal transplant. A chronic septic focus could not be located with standard imaging techniques, such as ultrasonography and computed tomography. This case report highlights the observation that a retained non-functioning transplant can be the cause of fever of unknown origin and PET-CT can be useful in diagnosing these challenging cases.

Purpureocillium lilacinum tattoo-related skin infection in a kidney transplant recipient.

Purpureocillium lilacinum is an emerging pathogenic mold among immunocompromised hosts that causes cutaneous infections related to skin breakdown. We present the first reported case of P. lilacinum tattoo-related skin infection, to our knowledge. A kidney transplant recipient recently treated for acute cellular rejection presented with skin papules overlying a tattoo. Diagnosis was confirmed on culture, histology, and 18S ribosomal RNA polymerase chain reaction. The morphological features on culture characteristic of P. lilacinum included violet colonies on malt extract agar, long tapering brush-like phialides, and elliptical conidia attached in chains. P. lilacinum has intrinsic resistance to many antifungal agents including amphotericin B, but voriconazole and posaconazole have good in vitro activity. The patient was treated with voriconazole with subsequent resolution of the papules after 3 months of therapy.

Severity of diverticulitis in patients with polycystic kidney disease without transplantation.

BACKGROUND: Patients with polycystic kidney disease (PKD) who have had a kidney transplant have an increased risk of diverticular disease and complicated diverticulitis. Literature is limited regarding the severity of diverticulitis in patients with PKD who have not had a transplant. We aim to assess whether patients with PKD, with and without renal transplant, have a similar course of diverticulitis. METHODS: A retrospective review of all adult PKD patients at our institution diagnosed with diverticulitis between 2000 and 2016 was conducted. Patients without documented PKD and diverticulitis were excluded. We compared PKD patients with and without renal transplantation. RESULTS: A total of 41 patients were identified. Mean age was 60 (± 12), and 56% were female. Fourteen patients had undergone renal transplantation. Five (19%) non-transplant patients had complicated diverticulitis, compared to 43% (n = 6) transplanted (p = 0.33). Fifteen (56%) non-transplant and 8 (57%) transplant patients had recurrent diverticulitis (p = 1.00). Three (11%) non-transplant and 5 (36%) transplanted patients had recurrent complicated diverticulitis. Eight (30%) non-transplant and 7 (50%) transplant patients underwent surgery (p = 0.31). All 8 non-transplant patients underwent sigmoid resection with primary anastomosis without diversion. In the transplant group, 3 Hartmann procedures and 1 sigmoid resection with and 3 without diversion were performed. There was one in-hospital death in each group. CONCLUSION: In our group of patients, there was no difference in rate of recurrent diverticulitis, diverticulitis complications, or operative intervention in patients with PKD with and without renal transplant. The renal transplant group had a higher rate of recurrent, complicated diverticulitis.

Intensity modulated radiotherapy and brachytherapy for a cervical cancer after renal transplantation.

Radiotherapy and surgery are important radical treatment options for cervical cancer, but the presence of a pelvic kidney complicates the situation. Fine radiation technique can help avoiding side effects. Radiation to the modified pelvis using intensity modulated radiotherapy (IMRT) followed by brachytherapy, while avoiding the renal allograft is technically feasible which ensures adequate target volume and reduces side effects. Here, the authors report a 45-year-old patient with invasive cervical cancer with a pelvic kidney who was treated by pelvic IMRT in combination with high-dose rate brachytherapy. There was no evidence of disease and with normal kidney function currently at 12 months.

Successful Treatment of Bloodstream Infection Due to Metallo-ß-Lactamase-Producing Stenotrophomonas maltophilia in a Renal Transplant Patient.

Stenotrophomonas maltophilia is an emerging multidrug-resistant (MDR) opportunistic pathogen for which new antibiotic options are urgently needed. We report our clinical experience treating a 19-year-old renal transplant recipient who developed prolonged bacteremia due to metallo-ß-lactamase-producing S. maltophilia refractory to conventional treatment. The infection recurred despite a prolonged course of colistimethate sodium (colistin) but resolved with the use of a novel drug combination with clinical efficacy against the patient's S. maltophilia isolate.

Combined liver-kidney transplantation for polycystic liver and kidney disease: analysis from the United Network for Organ Sharing dataset.

BACKGROUND & AIMS: The purpose of this study was to evaluate predictors of outcomes in combined liver-kidney transplants for polycystic liver and kidney disease. METHODS: We queried the United Network for Organ Sharing dataset for combined liver-kidney transplants performed from 1988 to 2013. RESULTS: Out of 107 patients who had combined liver-kidney transplants for polycystic liver and kidney disease, 84 were women (78.5%) with a mean age of 54.9 ±7.2 years. Kaplan-Meier analysis demonstrated that patients undergoing liver-kidney transplantation for polycystic liver and kidney disease had better survival than patients with polycystic liver disease undergoing liver transplant alone and those undergoing liver-kidney transplantation for other indications. This group had a 1-, 3- and 5-year survival of 91%, 90% and 90%, respectively. Multivariable analysis demonstrated that an indication of polycystic liver and kidney disease for combined liver-kidney transplant (hazard ratio, 0.29; 95% confidence interval, 0.129-0.526; P < 0.001) and Model for End-Stage Liver Disease score (hazard ratio, 1.271; 95% confidence interval, 1.093-1.477; P = 0.002) are independently associated with patient survival. In a propensity score analysis adjusting for age, gender, cold ischaemia time and total bilirubin and excluding hepatitis C, we found that patients transplanted with combined liver-kidney for other indications have similar survival compared with our study group. CONCLUSIONS: Combined liver-kidney transplantation for polycystic liver and kidney disease can achieve good outcomes in selected patients. On Cox regression analysis, patients with polycystic liver and kidney disease undergoing liver-kidney transplantation had better survival compared with patients with combined liver-kidney for other indications. After excluding hepatitis C patients, those transplanted for polycystic liver and kidney disease vs other indications had similar survival after combined liver-kidney transplantation. Interestingly, patients in the combined polycystic liver and kidney disease group have significantly better outcomes than patients with polycystic liver disease undergoing liver transplant alone.