El personal no sanitario de hospitales españoles y latinoamericanos ante la donación de vivo renal relacionada

IntroductionAncillary hospital personnel represent an important body of opinion because as they work in a hospital their opinion has more credibility for the general public as a result of their activity in hospitals. However, in most cases they do not have any health care training which means that their attitude could be based on a lack of knowledge or unfounded fears.ObjectiveTo analyze the attitude toward living kidney donation (LKD) among ancillary personnel in Spanish and Latin-American hospitals and to analyze the variables that might influence such attitude.Patients and methodfrom «International Collaborative Donor Project» a random sample was taken among ancillary personnel in Spain, Mexico and Cuba hospitals. Attitude towards LKD was evaluated using a validated, anonymously filled and self-administered survey.Results951 professionals were surveyed (Spain: 277, Mexico: 632, Cuba: 42). 89% (n = 850) are in favor of related kidney donation, lowering to 31% (n = 289) in non-related donation. Of the rest, 8% (n = 78) are not in favor and the 3% (n = 23) are unsure. By country, Cubans (98%) and Mexicans (91%) are more in favour than Spanish (84%) (P = .001). The following variables are related to favourable attitude towards LKD: female sex (P = .017), university degree (P = .010), work in health services (P = .035), labour stability (P = .016), personal experience in donation and transplantation (P = .001), positive attitude toward cadaveric donation (P < .001), belief that he or she might need a transplant in the future (P < .001), positive attitude towards living liver donation (P < .001), a willingness to receive a donated living liver if needed (P < .001), having discussed the subject of organ donation and transplantation within the family (P < .001), partner's positive attitude towards the subject (P < .001), participation in voluntary type pro-social activities (P = .002) and not being concerned about possible mutilation after donation (P < .001)ConclusionsThe attitude toward living related kidney donation is favourable among ancillary personnel in Spanish and Latin-Americans hospitals. Because living donation is a better source of organs than cadaveric ones, this favourable predisposition can be used as promoting agent of living donation in order to develop it in Spanish-speaking countries.     

20 años de experiencia en trasplante renal en bloque de donantes pediátricos en receptores adultos

BackgroundEn bloc kidney transplantation from pediatric donors into adult recipients increases the donor pool. However, this surgical procedure is not widely performed in many transplant centers. To evaluate the long-term outcomes of bloc kidney transplantation from pediatric donors into adult recipients in a single center.Material and methodsRetrospective analysis of 42 patients who received pediatric cadaveric bloc kidney transplantation in our center since 1999. Median follow-up period was 73 months (5-233) in which renal function tests were taken and complications registered.ResultsWe have performed 42 bloc kidney transplantation from pediatric donors into adult recipients in our center. The recipients’ age was 44.1 ± 11.8 years. Pediatric donors were 22.4 ± 14.7 months old and weighted 11.3 ± 3.6 kg. Cold ischemia time was 15.7 ± 4.5 hours. During a median follow-up of 73 months, 35 patients (83.3%) had graft survival with excellent function (first-year serum creatinine levels of 0.99 ± 0.25 mg/dl). There were 7 graft losses (16.7%) in the immediate postoperative period (4 cases of vascular thrombosis, one anastomosis dehiscence and 2 cortical necrosis).ConclusionsThe pediatric en bloc renal graft transplantation into adults is a safe technique with excellent medium- to long-term functional performance. The vast majority of significant complications leading to graft loss were reported in the immediate postoperative period. A good selection of donors and recipients as well as an adequate surgical technique are essential to minimize the occurrence of adverse events.     

En bloc kidney transplant from an 18-month-old donor to an adult recipient: Case report and literature review

INTRODUCTIONThere is an ever-increasing need for organ donations globally. Paediatric kidney transplantation into adult recipients is a well-recognised technique to expand the donor pool. The transplantation can be done either via en bloc kidney transplant (EBKT) or as single kidney transplantation (SKT).PRESENTATION OF CASEAn EKBT from a 18-month-old (15 kg) male patient was transplanted in a 35-year old, 85 kg male with end stage renal failure (ESRF), secondary to Focal Segmental Glomerulosclerosis (FSGS) on haemodialysis. Post-operative recovery was uneventful. Immuno-suppressant drugs used were tacrolimus, basiliximab and prednisolone. Doppler ultrasound scans performed post-operatively showed normal renal resistive indices in both kidneys. Serum creatinine decreased from 1200 to 170 μmol/L 57 with eGFR improving from 4 to 38 mL/min/1.73 m² at four weeks post-transplant.DISCUSSIONGiven the low incidence of paediatric donors, EBKTs are relatively uncommon and subsequently published series tend to be centre specific with small numbers. The graft survival rates tell us that paediatric kidney donors should not be considered as marginal transplants. The difficulty is in determining when it is more appropriate to perform a paediatric EBKT as opposed to splitting and performing two SKT. Unfortunately there are no widely accepted guidelines to direct clinicians.CONCLUSIONThis case report highlights the first EKBT performed at our institution. The current literature demonstrates that paediatric donors are excellent resources that should be procured whenever available.     

La población gitana tiene miedos sobre la donación de órganos propios para trasplante

IntroductionThe refusal rate for donating organs among the Roma people is much higher than that of any other social group.ObjectiveTo analyze the attitude towards the donation of one's own organs among the Roma population living in Spain.MethodsType of study: Spanish national observational sociological study stratified by gender and age. Study population: Roma population aged ≥ 15 years living in Spain. Sample size: 1253 respondents. Assessment instrument: validated questionnaire on attitude towards organ donation for transplantation PCID-DTO Ríos. Field work: random selection based on stratification. Anonymous and self-administered completion. The collaboration of people of Roma ethnicity was required. Statistics: Student's t test, χ², Fisher's exact test and a logistic regression analysis.ResultsThe degree of completion was 18.2% (n = 228). Of those who completed the questionnaire, 42.1% (n = 96) were in favor of donation, 30.3% (n = 69) were undecided and the remaining 27.6% (n = 63) were against it. Of the 1025 (81.8%) who declined to complete the questionnaire, 1004 (98%) indicated that it was for fear of speaking about and filling in a questionnaire that raises the issue of death and organ donation after death. If those who did not complete the questionnaire due to fear of death and donating organs after death are considered not in favor, the results would be as follows: 7.8% (n = 96) in favor of donating their organs compared to 92.2% (n = 1136) not in favor (against or undecided).ConclusionsA majority of the Roma population prefer not speak of death nor organ donation after death. These findings show that current campaigns to promote organ donation are not effective in this population group.     

Mannose-binding lectin-2 and ficolin-2 gene polymorphisms and clinical risk factors for acute rejection in kidney transplantation

IntroductionThere is growing evidence that the lectin pathway is significantly associated with acute rejection. Rare studies associated both gene polymorphisms of MBL2 and FCN2 with acute rejection after kidney transplantation. The aim of the present study was to investigate the role of the lectin gene profile and clinical risk factors such as PRA level on acute rejection in kidney transplant recipients.MethodsWe prospectively analyzed 157 kidney transplant recipients with and without acute rejection. A total of 6 well-known functional single-nucleotide polymorphisms in the MBL2 gene and 5 in the FCN2 gene of the recipients were determined by gene sequencing. MBL2 and FCN2 genotypic variants were analyzed for association with the incidence of acute rejection within the first year after kidney transplantation.ResultsAfter adjusting for variables of P < 0.2, we found the differences in the incidence of acute rejection were only according to panel-reactive antibodies (odds ratios (OR) = 6.468, 95% confidence intervals (CI) = 2.017–20.740, P = 0.002) and the HH genotypes of MBL2 promoter ? 550 (OR = 2.448, 95%CI = 1.026–5.839, P = 0.044).ConclusionPanel-reactive antibodies and the HH genotypes of MBL2 promoter ? 550 have significant impacts on the risk of developing acute rejection after kidney transplantation.     

Predictive factors of chronic kidney disease stage V after partial nephrectomy in a solitary kidney: a multi-institutional study

ObjectivePartial Nephrectomy (PN) in a solitary kidney is at risk of chronic kidney disease (CKD) stage V and/or haemodialysis (HD). Our objective was to determine predictive factors of CKD stage V in this population.Material & MethodsData from 300 patients were retrospectively collected from 16 tertiary centres. Clinical and operative parameters, tumor characteristics and renal function before surgery were analyzed. Patients with and without CKD stage V (defined as MDRD<15 ml/min) were compared using χ2 and Student-t tests for qualitative and quantitative variables, respectively. Predictive factors of CKD stage V were evaluated with a multivariable analysis using a Cox regression model.ResultsMedian age and BMI were 63 years old and 26 kg/m², respectively. Most of the patients (65%) were male with an anatomic solitary kidney (88.3%). Median tumor size was 4 cm and 98% were malignant tumors. Median operative time, blood loss and clamping time were 180 min, 350 ml and 20 min respectively. Renal cooling was used in 19.3% and clamping of the pedicle was performed in 61.6%. Twenty five patients (8.5%) presented post operative CKD stage V at last follow-up and 18 underwent HD (6%) post-operatively because of acute renal insufficiency. There was no difference between CKD stage V and non CKD stage V patients concerning Charlson index, operative time (180 min vs 179 min, p = 0.39), blood loss (475 ml vs 350 ml, p = 0.51), use of renal cooling and type of clamping. Patients with CKD stage V were older (70 vs 63 years old, p = 0.005), had a lower baseline renal function (clearance MDRD 41 vs. 62 ml/min, p<0.0001) and an increased tumor size (p = 0.02). Complications occurred in 91 patients (30%) with 16% of minor (Clavien 1–2) and 14% of major (Clavien > 2) complications, respectively. In multivariable analysis, baseline MDRD, BMI, and the occurrence of a minor complication were independent predictive factors of post operative CKD stage V.ConclusionPN in a solitary kidney is at risk of post-operative CKD stage V and HD. Pre-operative altered renal function and post operative complications are the main predictive factors of permanent CKD stage V.     

Chronic kidney disease consecutive to chemotherapy for chondroblastic osteosarcoma: A report on 6 pediatric cases

BackgroundThe management of osteosarcoma in children and adolescents is based on poly-chemotherapy including several nephrotoxic drugs (e.g. ifosfamide, methotrexate, and cisplatinum). Chronic renal toxicity is a frequent complication but stage 5 chronic kidney disease requiring dialysis is rare. We report here a series of six pediatric patients with osteosarcoma displaying chronic kidney disease after chemotherapy.Case-diagnosis/treatmentWe retrospectively reviewed the medical charts, mainly for clinical history, timing between chemotherapy and development of tubulopathy and CKD, type of therapies and global evolution (chronic dialysis and further renal transplantation, n = 2; death, n = 1). Notably, all patients suffered from chondroblastic osteosarcoma.ConclusionsAdvanced chronic kidney disease can be a complication of osteosarcoma management that could more frequently lead to dialysis and further transplantation. It would be interesting to identify specific risk factors of such renal toxicity. The chondroblastic sub-type may be associated with such susceptibility, but this needs to be confirmed.     

Comprehensive assessment of sensitizing events and anti-HLA antibody development in women awaiting kidney transplantation

BackgroundAlloimmunization remains a critical factor which affects the success of kidney transplantation. Patients awaiting solid organ transplantation may develop anti-HLA antibodies after pregnancies, transfusions and previous events of transplantations.AimWe evaluated the effects of different sensitizing events on the anti-HLA antibody production and the potential role of patient HLA alleles in the context of antibody development in both the overall and pregnancy sensitized groups.Material and methodsWe retrospectively stratified 411 women on waiting list for kidney transplantation by route of sensitization. The presence of anti-HLA antibodies was evaluated by Solid Phase Assay and HLA typing was performed by serological and molecular methods.ResultsIn our study population, 54% of women had anti-HLA antibodies. We found that the 51.6% of women with pregnancy only, 44% of women with transfusion only and 100% of women with a history of transplantation only developed anti-HLA antibodies. Pregnancy only resulted significantly associated with all anti-HLA antibody development such as anti-A, -B, -C, -DR, -DP as well as anti-DQB and -DQA antibodies. We investigated the influence of patient HLA alleles on the antibody development in the overall study population. Patients expressing HLA A*32 (p = 0.024, OR = 0.42), B*14 (p = 0.035, OR = 0.44), HLA-B*44 (p = 0.026, OR = 0.51) and DRB1*01 (p = 0.029, OR = 0.55) alleles produced anti-HLA antibodies less frequently compared to subjects with other alleles. In the pregnancy only group, B*14 (p = 0.010, OR = 0.12) and B*51 (p = 0.005, OR = 0.24) alleles were associated with a low risk of anti-HLA antibody development, while A*11 (p = 0.033, OR = 3.56) and DRB1*04 (p = 0.022, OR = 3.03) alleles seem to represent a higher risk.ConclusionsPregnancy still remains a strong sensitizing event in women awaiting kidney transplantation. The anti-HLA antibody development in pregnancy appears to be associated with the expression of particular HLA alleles.     

Faible indice de masse corporelle et impact des antirétroviraux sur la néphrotoxicité, la maladie rénale chronique chez les patients infectés par le VIH à Brazzaville,Congo

ObjectiveTo describe the incidence and risks factors of ART induced nephrotoxicity and chronic kidney disease in HIV-1-infected adults with low body mass index (<18.5 kg/m²).MethodsA retrospective cohort study at the Ambulatory Treatment Center in Brazzaville, Congo. Patients with estimated glomerular filtration rate decrease by 25% compared to baseline or a 0.5 mg/dL increase in serum creatinine above baseline were classified as having nephrotoxicity, and chronic kidney disease was defined as a value less than 60 mL/min/1.73 m². We used Cox proportional hazards regression models to determine factors associated with nephrotoxicity and chronic kidney disease.ResultsOf 325 patients, 73.23% were women. Median values were an age 37.55 years (IQR: 33.51–44.96), weight 45 kg (IQR: 41–49), CD4 count 137.5 cells/μL (42–245). In the first 24–months, follow-up on ART incidence rate of nephrotoxicity and chronic kidney disease was 27.95 and 7.44 per 100 persons-year respectively. Multivariate analysis identified as a risk factor of nephrotoxicity, baseline haemoglobin below or equal 8 g/dL (aHR = 2.25; 95%CI 1.28–3.98; P = 0.005) and the use of tenofovir (aHR = 1.51; 95%CI 1.01–2.27; P = 0.04). DFG between 60-80 mL/min/1.73 m2 (aHR = 0.35; 95%CI 0.21–0.59; P < 0.001) and 45-59 mL/min/1.73 m² (aHR = 0.10; 95%CI 0.01–0.72; P = 0.02) was not a contraindication for initiating antiretroviral therapy. Each 10-year older age was associated with an increased risk of developing chronic kidney disease (aHR = 1.95; 95%CI 1.2–3.17; P = 0.007).ConclusionIncidence of nephrotoxicity and chronic kidney disease were high. African HIV-positive patient with low body mass index at baseline need close monitoring of their renal function when treated with tenofovir.     

Three-dimensional laparoscopy for living-donor nephrectomy with vaginal extraction: The first case

IntroductionTwo-dimensional laparoscopy for living donor nephrectomy is the current standard of care. We report the first case of three-dimensional laparoscopy for living-donor nephrectomy with vaginal extraction.Presentation of caseThe procedure was performed in a 66-year-old woman donating his left kidney to her son with the HD S 3D column (Karl Storz, Tuttlingen, Germany). Preoperative computed tomography showed one left renal artery. The warm ischemic time was 2 min 20 s and the operative time was 200 min. There was no loss of blood and no intraoperative or postoperative complications.DiscussionThis report demonstrates the feasibility of using 3D laparoscopy which allows for a more in-depth vision, greater overall definition of planes, better accuracy of dissection and reduced operative times, for nephrectomy with vaginal extraction for kidney donation.ConclusionThree-dimensional laparoscopy for living-donor nephrectomy with vaginal extraction is feasible and could become a new standard.     

Cirugía robótica multicuadrante concomitante para prostatectomía radical y nefrectomía parcial izquierda. Dos procedimientos mediante un solo abordaje

IntroductionTo present the first case of a concomitant robotic radical prostatectomy and a left robotic partial nephrectomy performed by a single-port approach using the SP® da Vinci surgical system (Intuitive Surgical, Sunnyvale CA, EE.UU.).Patient and methodsA 66-year-old male diagnosed with localized prostate cancer and a left kidney renal mass incidentally found on computed tomography (CT) scan during prostate cancer evaluation. Procedures were performed using a single supra-umbilical 3 cm incision, plus one additional laparoscopic port, utilizing a standard Gelpoint® (Applied Medical, Rancho Santa Margarita, CA, EE.UU.) and replicating the technique previously described for single-port transperitoneal radical prostatectomy and partial nephrectomy with the use of the SP® robotic platform.ResultsTotal operative time was 256 minutes (min) with a console time of 108 min for radical prostatectomy, and 101 min for the partial nephrectomy respectively, including a warm ischemia time of 26 min. Estimated blood loss was 250 cc. Blood transfusion was not needed. Final pathology for prostate was adenocarcinoma Gleason 7 (4 + 3) and for the kidney lesion was renal cell carcinoma. After two months of follow-up, PSA was undetectable and no complications or recurrence were detected.ConclusionsThe single-port approach has advantages as easier surgical planning and transition for combined and multi-quadrants surgeries: faster recovery, minimal postoperative pain and need for opioids, and excellent cosmetic outcome. We suggest that combined procedures should be performed only in high volume institutions by surgeons with vast experience in robotic surgery in selected patients.     

Nefrectomía laparoscópica derecha de donante vivo: evaluación del resultado y asociación del IMC con la longitud de la vena renal derecha

AimsThe aim of this study was to describe outcomes of laparoscopic living donor right nephrectomy (LLDRN) and study factors affecting the length of right renal vein from the donors.Material and methodsThis study was conducted in 60 donors (48 males and 12 females) from January 2016 to December 2017. We performed a retrospective review of consecutive patients who underwent transperitoneal right laparoscopic living donor nephrectomy at our unit.ResultsLLDRN was successfully performed in all subjects by the same surgeons. Among 60 cases, 47 donors had single renal artery and vein, 2 cases had one artery and 2 veins, and 5 donors had 2 arteries and one vein, and the rest had 2-3 arteries with 1-3 veins. Operative time was 142.60 ± 33.73 min. Warm ischemic time was 2.64 ± 0.76 min. The mean hospital stay was 6.69 ± 0.63 days. The median length of right renal vein was 1.92 ± 0.41 cm. All transplanted kidneys showed immediate function. No graft losses were recorded. Almost no gender differences were found in study variables except BMI and warm ischemic time, that was higher BMI but shorter warm ischemic time in female versus male donors. Further analysis showed a negative correlation between BMI and right renal vein (r = −0.282, P < 0.05), but a positive correlation between operative time and estimate blood loss (r = 0.37, P < 0.01).ConclusionsLLDRN is a feasible safe procedure, less traumatic approach, and provides good outcomes kidney for recipients. Notably, in the study group the higher BMI was associated with resulting more difficult LLDRN and kidney transplantation.     

Partial elective nephrectomy

IntroductionPartial nephrectomy is widely accepted as a therapeutic modality in renal cell carcinoma (RCC) in patients with single kidney, bilateral tumor or deteriorated renal function. Currently, long-term survival studies have consolidated partial nephrectomy as the treatment of choice for RCC in selected patients with normal contralateral kidney.Material and methodsBetween July 1990 and January 2008, a total of 102 partial nephrectomy were performed on 100 patients with pre-operative ultrasonography diagnosis of renal carcinoma in 94 cases and complex renal cysts in 6 cases. The pre-operative ultrasonography size varied from 1.5 to 10 cm with an average of 4.85 cm.ResultsTumor size was correlated with the pathological stage, finding tumors in stage pT1 with sizes less than and greater than 4 cm in 74% and 64%, respectively, and in stage pT2 of 3.7% and 5.4%. Tumor size measured by pre-operative CT scan was compared with the definitive size of the pathology specimen in 93 cases (56 < 4 cm and 37 > 4 cm, according to the CT scan). We found high concordance, however in the larger tumors, there was a tendency of the CT scan to overestimate the size. A post-operative gamma scintigraphy with DMSA was performed in 40 patients. The values in the tumors < 4 cm (21 patients) were 12-77% (average 43.3%). In tumors between 4 and 7 cm (17 patients), the values were 13.8-53.3% (average 37.6%) and in 2 cases of tumors > 7 cm the post-operative DMSA showed 47.5 and 51%.ConclusionsPartial nephrectomy is currently accepted as elective treatment in incidental kidney tumors less than 4 cm and it is indicated increasingly more frequently in larger tumors and of central localization. The finding of benign pathology in the anatomic-pathology specimen in up to 20% of the incidental renal tumors and low potential of malignancy of the possible satellite lesions in the remnant kidney also support nephron-spearing surgery in these tumors.     

Absence of C4d urinary excretion in the early post-transplant period is associated with improved long-term kidney graft survival

IntroductionC4d urinary excretion varies according to the risk of graft rejection or progression of chronic allograft nephropathy, but its influence on long-term kidney transplant (KTx) outcomes remains unclear.The aim of the study was to determine whether the initial (1–3 months post KTx) level of C4d urinary excretion may help to predict long-term kidney allograft transplantation outcomes.Materials and methodsThe study involved 185 patients who had undergone KTx. The urinary specimens taken from the morning urine portion were assessed by ELISA test for C4d excretion. To increase the objectivity of the assessment, all measurements were divided by urinary creatinine excretion (ng/mgCr). The study population was grouped according to the C4d excretion cut-off value into low (LC4d, 109 participants) and high (HC4d, 76 participants) C4d excretion groups. Additionally a subgroup with absence of C4d in the urine (ZC4d, 26 patients) was formed.ResultsThe calculated Roc curve indicated the cut off value of the urinary C4d excretion as 12.4 ng/mgCr (AUC 0.77; 95%CI 0.73–0.95). The mean C4d urinary excretions in LC4d and HC4d were 1.9 ± 3.27 and 20.6 ± 4.6 ng/mgCr, respectively, whereas after exclusion of ZC4d subgroup, the mean C4d was 14.9 ± 6.3 ng/mgCr in the remainder. Kaplan–Meier curve analysis demonstrated a slightly higher graft survival rate (GSR) in LC4d than in HC4d group (p = 0.04 by log-rank). The subsequent analysis showed the highest GSR in ZC4d subgroup (p = 0.0006 by log-rank).ConclusionAlthough lower C4d urinary excretion in the early post-transplant period seems to be associated with better long-term kidney allograft transplantation outcomes, only its absence in the urine appears to be a solid predictor of improved graft survival.     

Salvage transhepatic arterial embolization after failed stage I ALPPS in a patient with a huge HCC with chronic liver disease: A case report

IntroductionThe degree of hypertrophy of the future liver remnant (FLR) induced by associating liver partition and portal vein ligation for staged hepatectomy (ALPPS) in patients with HCC and chronic liver disease is often limited as compared with patients with a healthy liver.Presentation of caseWe reported a 53-year-old male who had a huge HCC (14.8 × 12 × 9.4 cm) arising from a background of hepatitis B liver fibrosis (METAVIR score F3). The ratio of the FLR/standard liver volume (SLV) was 23.8%. After stage I ALPPS, volumetric assessment on postoperative day (POD) 7 and 13 showed insufficient FLR hypertrophy (FLR/SLV: 28.7% and 30.7%, respectively). A postoperative computed tomographic 3D reconstruction and hepatic angiography showed steal of arterial blood from the FLR to the huge tumour in the right liver. Salvage transhepatic arterial embolization (TAE) was performed to block the major arterial blood supply to the tumour on POD 13. The FLR/SLV increased to 42.5% in 7 days. Stage II ALPPS consisting of right trisectionectomy was successfully performed.DiscussionSalvage TAE which blocked the main arterial blood supply to the huge HCC improved the arterial supply with subsequent adequate and fast hypertrophy of the FLR to allow trisectionectomy in stage II ALPPS to be carried out.ConclusionSalvage TAE after failed stage I ALPPS with inadequate hypertrophy of the FLR allowed trisectionectomy in stage II ALPPS to be carried out in a patient with a huge HCC with chronic liver disease.     

Kidney damage due to tuberous sclerosis complex: Management recommendations

ObjectiveTo deduce recommendations from the literature on the management of kidney damage caused by tuberous sclerosis complex (TSC).Material and methodsFive practitioners have written up recommendations after reviewing the literature. They were evaluated by 14 experts using a 9 level scale (1: complete disagreement; 9: complete agreement), then reworded until each item received a median score of greater than or equal to 8.ResultsForty-eight to 80% of patients with TSC have kidney disease with the presence of angiomyolipomas (AML), cysts, cancers and/or progression towards renal insufficiency. An abdominal ultrasound (and serum creatinine level if there is an abnormality) is recommended as soon as the TSC is diagnosed. The evaluation should be repeated every 3 to 5 years if it is normal. Numerous and voluminous cysts are suggestive of associated polycystosis. After 20 years of age, the monitoring should be based on CT scan or MRI, which are more precise in the monitoring of AML. The biopsy of a renal mass should be discussed if there are calcifications, central necrosis or rapid growth. Lymphangioleiomyomatosis should be screened for in women via pulmonary CT scan at 18 and 30 to 40 years of age. Haemorrhagic rupture of an AML should be treated in first-line by embolisation. Asymptomatic AMLs that cumulate risk factors for bleeding (size > 80 mm, predominant vascular contingent, micro-aneurisms) should be preventively treated, if possible by embolisation. The role of mTOR inhibitors remains to be defined.ConclusionMonitoring and a standardised treatment are necessary to improve the treatment of renal damage caused by TSC.     

Cornelia de Lange syndrome and congenital diaphragmatic hernia

PurposeThere is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%–20% of CdLS cases. We aimed to identify and describe patients with CDLS and CDH. We hypothesized that CdLS would be associated with high-risk CDH and poor outcomes.MethodsCDH Study Group patients from 1995 to 2019 were included. Those with CdLS were reviewed retrospectively. Rates of repair and outcomes were compared between patients with and without CdLS.ResultsWe identified 9,251 CDH patients. Of those, 21 had confirmed CdLS. CdLS patients had a lower birth weight (2.2 ± 0.57 kg) than non-CdLS patients (2.9 ± 0.64 kg) (p < 0.001). 5-min Apgar scores were lower in CdLS patients (6, 4–7) than non-CdLS patients (7, 5–8) (p = 0.014). Only 33% of CdLS patients underwent diaphragmatic repair compared to 84.2% of non-CdLS patients (p < 0.001). Mortality was 76% for CdLS patients compared with 29% for non-CdLS patients (p < 0.001). Of the 7 CdLS patients who underwent repair, 5 survived to hospital discharge.ConclusionsInfants with CdLS and CDH have a poor prognosis. However, CdLS patients who undergo repair can survive to discharge; therefore, the concomitant diagnosis of CdLS and CDH is not necessarily a contraindication to repair. Early recognition of these anomalies can assist with counseling and prognostication.Type of studyRetrospective comparative studyLevel of evidenceIII