SCYL1 deficiency: A rare entity with challenging neurological manifestations after liver transplantation.

BACKGROUND: Pediatric acute liver failure (PALF) with undetermined etiology is associated with higher liver transplantation and lower spontaneous recovery (transplant-free) rates. The diagnostic odyssey in PALF cases hinders appropriate management and follow-up after liver transplantation. Advances in whole exome sequencing analysis have already been successful at identifying new genetic causes of PALF. CASE PRESENTATION: We report a 17-year-old girl who underwent liver transplantation at the age of 7 months due to acute liver failure and presented later with abnormal neurological manifestations, that is, gait disturbances, dysarthria, and mental retardation that led us to the diagnosis of SCYL1 deficiency. CONCLUSION: PALF cases should be screened for possible underlying genetic disorders. Genetic studies and reanalysis of whole-genome sequencing data may help identify new cases and clarify the genotype-phenotype correlation. SCYL1 deficiency should be suspected in PALF patients who develop neurological involvement after LT. Early diagnosis is vital for proper management of ALF crises in SCYL1 deficiency patients. Despite the reported favorable outcomes of ALF crises in SCYL1 deficiency, liver transplantation decision should be discussed on a case-by-case basis.

Perioperative management in pediatric domino liver transplantation for metabolic disorders: A narrative review.

Domino liver transplantation and domino-auxiliary partial orthotopic liver transplantation are emerging techniques that can expand the liver donor pool and provide hope for children with liver disease. The innovative technique of domino liver transplantation has emerged as a pioneering strategy, capitalizing on structurally preserved livers from donors exhibiting single enzymatic defects within a morphologically normal context, effectively broadening the donor pool. Concurrently, the increasingly prevalent domino-auxiliary partial orthotopic liver transplantation method assumes a critical role in bolstering available donor resources. These advanced transplantation methods present a unique opportunity for pediatric patients who, despite having structurally and functionally intact livers and lacking early signs of portal hypertension or extrahepatic involvement, do not attain priority on conventional transplant lists. Utilizing optimal clinical conditions enhances posttransplant outcomes, benefiting patients who would otherwise endure extended waiting periods for traditional transplantation. The perioperative management of children undergoing these procedures is complex and requires careful consideration of some factors, including clinical and metabolic conditions of the specific metabolic disorder, and the need for tailored perioperative management planning. Furthermore, the prudent consideration of de novo disease development in the recipient assumes paramount significance when selecting suitable donors for domino liver transplantation, as it profoundly influences prognosis, mortality, and morbidity. This narrative review of domino liver transplantation will discuss the pathophysiology, clinical evaluation, perioperative management, and prognostic expectations, focusing on perioperative anesthetic considerations for children undergoing domino liver transplantation.

Long-term results of kidney transplantation in patients with familial mediterranean fever.

INTRODUCTION: Long-term kidney transplantation (KT) results in patients with familial Mediterranean fever (FMF)-related amyloidosis are not well studied. This study reviewed the long-term survival outcomes of FMF patients who underwent KT. METHODS: We compared the outcomes of 31 patients who underwent (KT) for biopsy-proven amyloidosis secondary to FMF with 31 control patients (five with diabetes mellitus and 26 with nondiabetic kidney disease) undergoing KT between 1994 and 2021 at Baskent University Hospital. All data were recorded retrospectively from patients' files. RESULTS: THE MEDIAN AGE (QUARTILE DEVIATION: QD) at the time of KT in the FMF and control group were 31 (6.7) and 33 (11), respectively. The median follow-up period (QD) after KT was 108 (57) months in the FMF and 132 (72) months in the control group. In the FMF group, graft and patient survivals were 71% and 84% at 5 years and 45% and 48% at 10 years, respectively. In the control group, graft and patient survivals were 79% and 100% at 5 years and 63% and 71% at 10 years, respectively. Patient survival in the FMF group at 5 years was significantly lower than in the control group (p = .045). There was no statistically significant difference between the FMF and control groups in terms of graft and patient survival, and serum creatinine levels at 10 years. All patients were given triple immunosuppressive treatment with cyclosporine, mycophenolate mofetil, and prednisolone. Three patients received anakinra and one received canakinumab in addition to colchicine treatment. One FMF patient also underwent heart transplantation due to AA amyloidosis. Of the FMF patients, 11 died during follow-up. CONCLUSION: We have found that the long-term outcome of KT in patients with FMF amyloidosis is numerically worse but not statistically different from the control group. However, short- and long-term complications still need to be resolved.

Can we identify "at-risk" children and adolescents for poor transplant outcomes in the psychosocial evaluation before solid organ transplantation? The reliability and validity study of Pediatric Transplant Rating Instrument (P-TRI) in Turkish pediatric renal transplant patients.

BACKGROUND: This study aims to translate the Pediatric Transplant Rating Instrument (P-TRI) to conduct a validity and reliability study on Turkish children and define a cutoff value of this scale. METHOD: A total of 151 pediatric kidney transplant patients were included in the study. The files of the patients were reviewed by two clinicians, and the scale was filled for inter-rater reliability. One of the clinicians filled the scale again after one month for intra-rater reliability. Glomerular filtration rate (GFR) and creatinine values were used for predictive validity. A GFR below <60 ml/min/1.73 m2 and creatinine up to 3.0 mg/dl was defined as risk factors. RESULTS: Correlation of P-TRI with GFR (r = .252, p = .003) and creatinine (r = -.249, p = .002) was performed, and the internal consistency of the scale items as measured by Cronbach's alpha coefficient was found to be 0.825. When the test was performed again, the intra-class correlation coefficient was found as .922 for intra-rater reliability and as .798 for inter-rater reliability. For both creatinine and GFR, the best cutoff point for the total score was found to be 66.5. CONCLUSIONS: Patients who received P-TRI above 66.5 could be at risk in the post-transplant period. Identification of these patients before transplantation and following these young people more closely will aid in the prevention of serious consequences. The reliability and validity scores are satisfactory for use in transplantation clinics for psychosocial evaluation and compliance in Turkish pediatric renal transplantation patients.

Long-term effect of eplerenone treatment in children with chronic allograft nephropathy.

BACKGROUND: Literature supports the protective role of mineralocorticoid antagonist (MRA) against the renal injury induced by aldosterone in kidney transplant recipients. However, there is limited data available regarding the safety and efficacy of MRAs in pediatric renal transplant patients. Therefore, we aimed to investigate the effect of long-term eplerenone administration in children with chronic allograft nephropathy (CAN). METHODS: Twenty-six renal transplant children with biopsy-proven CAN, an estimated glomerular filtration rate (eGFR ) > 40 mL/min per 1.73 m2 and with a significant proteinuria were included. Selected patients were randomly divided into two groups as follows; Group 1 (n = 10) patients received 25 mg/day eplerenone and Group 2 (n = 16) patients did not receive eplerenone for 36 months. Patients were examined in the renal transplant outpatient clinic biweekly for the first month and once a month thereafter. The primary outcome of the patients was compared. RESULTS: Mean eGFR stayed stable in group 1 patients, but significantly decreased in group 2 at 36 months (57.53 ± 7.53 vs. 44.94 ± 8.04 mL/min per 1.73 m2 , p = .001). Similarly, spot protein-creatinine ratio was significantly lower in group 1 compared to group 2 patients at 36 months (1.02 ± 7.53 vs. 3.61 ± 0.53, p < .001). Eplerenone associated hyperkalemia was not observed in group 1 patients (4.6 ± 0.2 vs. 4.56 ± 0.3, p = .713). CONCLUSION: The long-term eplerenone administration blunted the chronic allograft nephropathy by maintaining a stable eGFR levels and decreasing urine protein-creatinine ratio. Eplerenone associated hyperkalemia was not observed in our study.

Doppler ultrasonography blood flow changes of the hepatic artery in liver transplants complicated with cholangitis.

PURPOSE: Cholangitis after liver transplantation may lead to bile duct necrosis. Early diagnosis is essential to prevent graft loss. We aimed to investigate cholangitis related hepatic arterial Doppler ultrasonography findings in liver transplants. METHODS: Patients complicated with biopsy proven cholangitis in grafts were prospectively evaluated. Vascular complications were excluded. Doppler ultrasonography parameters including hepatic arterial diameter, resistive index, volume flow, and portal vein maximum velocity were measured twice: first during cholangitis and after full recovery. Data of two groups were compared using paired samples t test and Mann-Whitney U test. RESULTS: The mean hepatic arterial volume flow, resistive index, and diameter of 33 patients complicated with cholangitis was observed to decrease after recovery from 0.356 to 0.273 L/min (p = 0.007), from 0.64 to 0.60 (p < 0.001) and from 4.9 to 4.4 mm (p < 0.001), respectively. Portal vein maximum velocity alteration was not statistically significant (p = 0.6). CONCLUSION: Ultrasound follow-ups after liver transplantation can give us the clue of cholangitis initiation through some altering hepatic arterial Doppler parameters. Even though these are nonspecific findings that can also be observed in vascular complications, baseline Doppler data should be saved for future comparison and considered to prevent biliary associated graft loss.

Effect of meal intake for evaluating hepatic artery by Doppler ultrasonography in liver transplants: Does fasting matter for screening hepatic artery due to hemodynamic changes in splanchnic circulation?

PURPOSE: The aim of this study is to assess the utility of fasting on Doppler ultrasonography findings of hepatic artery in liver transplants. METHODS: Liver transplant patients without vascular abnormalities were prospectively evaluated between December 2017 and January 2020. Doppler sonography was used to describe hemodynamic changes in response to a standard meal. The diameter, peak systolic velocity, blood flow, resistive index (RI) of the main hepatic artery and portal vein peak velocity were measured. RESULTS: The mean hepatic arterial diameter of 44 patients was higher in the fasting group (4.5 mm) than in the postprandial group (3.3 mm) (p < .05). The mean hepatic arterial blood flow decreased (from .276 to .127 L/min) and hepatic arterial RI increased (from .66 to .71) following meal ingestion (p < .05). Hepatic arterial velocity was significantly lower and portal venous velocity was higher after oral intake. CONCLUSION: Meal ingestion has an important effect on hepatic artery Doppler features in liver transplants. Therefore, Doppler ultrasound evaluation should be considered after appropriate fasting due to postprandial responses of liver transplant.

Evaluation of extensively drug-resistant gram-negative bacteremia among solid-organ transplant recipients: a multicenter study

Background/aim: The aim of this study is to evaluate the distribution, sources, clinical features, and mortality rates of bacteremia due to evaluation of extensively drug-resistant (XDR) gram negative among solid-organ transplant (SOT) recipients. Materials and methods: A retrospective study of SOT recipients with bacteremia due to XDR gram-negative pathogens in 11 centers between 2016 and 2018 was conducted. Patients' records were evaluated. Results: Of 171 bacteremia that occurred in 164 SOT recipients, 93 (56.7%) were liver, 46 (28%) kidney, 14 (8.5%) heart, and 11 (6.7%) lung recipients. Bacteremia episodes were recorded in the first year in 63.7% of the patients (n = 109), early-onset bacteremia was recorded in 45% (n = 77) of the episodes. In multivariate analysis, catheter-associated bacteremia was an independent risk factor for 7-day mortality (p = 0.037), and early-onset bacteremia was found as an independent risk factor for 30-day mortality (p = 0.017). Conclusion: Difficult-to-treat infections due to XDR bacteria in SOT recipients shadow the success of transplantation. Central venous catheters seem to be the main risk factor. Judicious use of medical devices is of pivotal importance.

Changes in ocular biometric parameters after renal transplantation.

PURPOSE: This study aimed to investigate the changes in postoperative ocular biometric parameters in end-stage renal disease patients who underwent renal transplantation. MATERIAL AND METHODS: This retrospective study included a total of 33 eyes of 33 patients. The ocular biometric measurements which were evaluated were axial length (AL), central corneal thickness (CCT), anterior chamber depth (ACD), corneal keratometry (K1 and K2), degree of astigmatism, lens thickness (LT), and intraocular pressure (IOP). Refractive prediction error (RE) was calculated before and after renal transplantation using the same diopter (D) for intraocular lens (IOL) power calculation and evaluated for potential cataract surgery. RESULTS: The study included 15 male (45%) and 18 female (55%) patients. Mean patient age was 31.55 ± 8.24 (range: 18-49 years). In the comparison of preoperative and 1-month postoperative measurements, there was a statistically significant difference in AL, LT, ACD, and CCT (p < 0.001). There was no statistically significant difference between K1, K2, and astigmatism measurements (p = 0.72; p = 0.35; p = 0.62, respectively). There was no statistically significant difference in RE (p = 0.61-Holladay 2). CONCLUSION: While renal transplantation surgery does not lead to significant changes in astigmatism, predicted refractive error, corneal keratometry, or intraocular pressure, it causes significant decrease in axial length, lens thickness, and central corneal thickness and significant increase in anterior chamber depth. However, these changes do not result in significant changes in IOL power calculation in planned cataract surgery.

The curative treatment of familial hypercholesterolemia: Liver transplantation.

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by premature mortal cardiovascular complications. Liver transplantation (LT) is the only curative treatment option. In this study, the long-term clinical follow-up data of 8 patients who underwent LT with a diagnosis of FH in our center are presented. MATERIALS AND METHODS: A total of 638 LT were performed between December 1985 and June 2019 at Baskent University, of which 8 patients underwent LT with a diagnosis of FH and were evaluated retrospectively. RESULTS: Of the 8 patients, 4 underwent deceased donor and 4 living donor transplantation. Five patients had preoperative cardiovascular disease and consequent interventional operations. There was significant reduction in postoperative LDL-C and TC levels starting from the first week, and stabilizing at the first month and first year. The median survival time of patients was 5 years (2-12 years). All patients are still alive. None of the complications of patients with preoperative cardiovascular complications had progressed. CONCLUSION: Liver transplantation is the preferred curative treatment for the pathophysiology of FH. In our study, LDL-C levels were brought under control with LT performed on patients with FH. Median 5-year follow-up of patients showed that the progression of cardiac complications was abated.