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1.
Pediatr Transplant ; 28(5): e14825, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39001656

RESUMEN

BACKGROUND: Liver transplantation (LTx) constitutes a major life-saving routine treatment for children with end-stage liver disease. However, the analysis of LTx registries in children provides much information about changes in the indication profiles in the recent years. METHODS: The article provides a comprehensive review about the successes, hopes, and challenges related to changing indications for LTx in children based on the literature review and our own experience. Retrospective review of the indications for LTx at a tertiary referral pediatric hospital was also presented. RESULTS AND CONCLUSIONS: In the context of the new therapies that have emerged, the need for LTx has decreased in patients with chronic hepatitis B and C infection and tyrosinemia type 1. In primary hyperoxaluria type 1, new RNAi-based therapy has eliminated the requirement for LTx (both isolated or combined). There is a hope that introduction of ileal bile acid transporter (IBAT) blockers reduces the need for LTx in patients with Alagille syndrome or progressive familial intrahepatic cholestasis. The number of children qualified for LTx with urea cycle disorders (UCDs) as a prophylaxis of neurodevelopmental impairment is increasing.


Asunto(s)
Trasplante de Hígado , Humanos , Niño , Enfermedad Hepática en Estado Terminal/cirugía , Síndrome de Alagille/cirugía , Preescolar , Tirosinemias/tratamiento farmacológico , Tirosinemias/terapia , Estudios Retrospectivos , Colestasis Intrahepática/cirugía , Adolescente , Hiperoxaluria Primaria/cirugía , Hepatitis B Crónica/complicaciones , Hepatitis B Crónica/tratamiento farmacológico , Selección de Paciente , Hepatitis C Crónica/tratamiento farmacológico , Hepatitis C Crónica/complicaciones , Lactante
2.
Am J Transplant ; 23(10): 1622-1625, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37187295

RESUMEN

We report the case of a 12-year-old boy with primary hyperoxaluria type 2 (PH2) presenting with end-stage renal disease and systemic oxalosis who underwent a combined living donor liver and kidney transplant from 3 donors, 1 of whom was a heterozygous carrier of the mutation. Plasma oxalate and creatinine levels normalized immediately following the transplant and remain normal after 18 months. We recommend combined liver and kidney transplantation as the preferred therapeutic option for children with primary hyperoxaluria type 2 with early-onset end-stage renal disease.


Asunto(s)
Hiperoxaluria Primaria , Hiperoxaluria , Fallo Renal Crónico , Trasplante de Riñón , Trasplante de Hígado , Masculino , Niño , Humanos , Donadores Vivos , Hiperoxaluria Primaria/genética , Hiperoxaluria Primaria/cirugía , Fallo Renal Crónico/cirugía , Hígado
3.
Am J Kidney Dis ; 82(1): 113-116, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36693470

RESUMEN

Primary hyperoxaluria type 1 is a rare cause of kidney failure. Stiripentol, an inhibitor of lactate dehydrogenase A, and lumasiran, a small interfering RNA targeting glycolate oxidase, have been proposed as therapeutic options, but clinical data are scarce, especially in adults and transplanted patients. We describe the case of a 51-year-old patient with a biopsy-proven recurrence of oxalate nephropathy after a kidney-only transplantation. He received stiripentol and lumasiran without adverse events. Fourteen months after transplantation, graft function, serum, and urinary oxalate levels have remained stable, and kidney biopsy showed a complete regression of oxalate crystals. Further studies are needed to assess whether this strategy is effective and could replace liver-kidney transplantation.


Asunto(s)
Hiperoxaluria Primaria , Hiperoxaluria , Trasplante de Riñón , Insuficiencia Renal , Masculino , Humanos , Adulto , Persona de Mediana Edad , Trasplante de Riñón/efectos adversos , Hiperoxaluria Primaria/complicaciones , Hiperoxaluria Primaria/cirugía , Hiperoxaluria/etiología , ARN Interferente Pequeño , Insuficiencia Renal/etiología , Oxalatos
4.
Pediatr Nephrol ; 38(6): 1811-1820, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36449101

RESUMEN

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by the liver defect of oxalate metabolism, which leads to kidney failure and systemic manifestations. Until recently, liver transplantation was the only definitive treatment. The timing of liver transplantation can be early, while kidney function is still normal (pre-emptive liver transplantation-PLT), or when the patient reaches stage 5 chronic kidney disease (CKD) and needs combined liver-kidney transplantation. We aimed to determine the long-term kidney outcomes of PLT in PH1 patients. METHODS: A retrospective single-center study of PH1 patients who were followed in our center between 1997 and 2017. We compared the kidney outcomes of patients who underwent PLT to those who presented with preserved kidney function and did not undergo PLT. RESULTS: Out of 36 PH1 patients, 18 patients were eligible for PLT (eGFR > 40 mL/min/1.73 m2 at the time of diagnosis). Seven patients underwent PLT (PLT group), while 11 continued conservative treatments (PLTn group). In the PLT group, the median eGFR at the time of PLT and at the end of the follow-up period (14-20 years) was 72 (range 50-89) and 104 (range 86-108) mL/min/1.73 m2, respectively, and no patient died or reached stage 5 CKD. In the PLTn group, eight patients (72.7%) reached stage 5 CKD (median time to kidney replacement therapy was 11 years), and two patients died from disease complications (18.2%). CONCLUSIONS: Pre-emptive liver transplantation preserved kidney function in patients with PH1 in our cohort. Early intervention can prevent kidney failure and systemic oxalosis in PH1. A higher resolution version of the Graphical abstract is available as Supplementary information.


Asunto(s)
Hiperoxaluria Primaria , Fallo Renal Crónico , Trasplante de Hígado , Insuficiencia Renal , Humanos , Trasplante de Hígado/efectos adversos , Estudios Retrospectivos , Hiperoxaluria Primaria/complicaciones , Hiperoxaluria Primaria/cirugía , Fallo Renal Crónico/etiología , Insuficiencia Renal/complicaciones
5.
Pediatr Transplant ; 26(8): e14380, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35979862

RESUMEN

BACKGROUND: Although nephrolithiasis (NL) and nephrocalcinosis (NC) are very common features of primary hyperoxaluria type 1 (PH1), the long-term prognosis of NL and NC after preemptive liver transplantation (PLT) has not been elucidated. MATERIAL AND METHODS: We describe the cases of two chronic kidney disease (CKD) stage three patients with different clinical courses after PLT for PH1. RESULTS: The first patient underwent PLT at 7 years of age with an estimated glomerular filtration rate (eGFR) of 47.8 ml/min/1.73 m2 . Two years later, she experienced several episodes of obstructive pyelonephritis due to urolithiasis, and developed septic shock in one of these episodes. At the same time as these episodes, preexisting NL and NC progressively improved, with disappearance on X-ray disappeared at 8 years after transplantation. Her renal function has been maintained with an eGFR of 58.7 ml/min/1.73 m2 . The second patient received PLT at 10 years of age with an eGFR of 58.9 ml/min/1.73 m2 . Her renal function has been maintained with an eGFR of 65.9 ml/min/1.73 m2 . She had repeated urolithiasis which started to appear at 3 years after LT. The radiological findings still show bilateral NL and NC, but the stones in the renal pelvis have shown mild improvement. CONCLUSIONS: Regardless of the regression in NC seen on X-ray, long-term maintenance of the renal function in patients with PH1 with CKD stage 3 can be achieved with PLT. In patients with NL, there is a risk of serious complications due to posttransplant immunosuppressive therapy when obstructive pyelonephritis occurs after LT.


Asunto(s)
Hiperoxaluria Primaria , Hiperoxaluria , Fallo Renal Crónico , Trasplante de Hígado , Nefrocalcinosis , Nefrolitiasis , Pielonefritis , Urolitiasis , Humanos , Femenino , Nefrocalcinosis/etiología , Nefrocalcinosis/complicaciones , Trasplante de Hígado/efectos adversos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/cirugía , Hiperoxaluria Primaria/complicaciones , Hiperoxaluria Primaria/cirugía , Nefrolitiasis/complicaciones , Nefrolitiasis/diagnóstico , Urolitiasis/complicaciones , Pielonefritis/complicaciones
6.
Am J Transplant ; 21(12): 4061-4067, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34254430

RESUMEN

Primary hyperoxaluria type 1 is a rare inherited disorder caused by abnormal liver glyoxalate metabolism leading to overproduction of oxalate, progressive kidney disease, and systemic oxalosis. While the disorder typically presents with nephrocalcinosis, recurrent nephrolithiasis, and/or early chronic kidney disease, the diagnosis is occasionally missed until it recurs after kidney transplant. Allograft outcomes in these cases are typically very poor, often with early graft loss. Here we present the case of a child diagnosed with primary hyperoxaluria type 1 after kidney transplant who was able to maintain kidney function, thanks to aggressive renal replacement therapy as well as initiation of a new targeted therapy for this disease. This case highlights the importance of having a high index of suspicion for primary hyperoxaluria in patients with chronic kidney disease and nephrocalcinosis/nephrolithiasis or with end stage kidney disease of uncertain etiology, as initiating therapies early on may prevent poor outcomes.


Asunto(s)
Hiperoxaluria Primaria , Hiperoxaluria , Fallo Renal Crónico , Trasplante de Riñón , Aloinjertos , Humanos , Hiperoxaluria Primaria/cirugía , Fallo Renal Crónico/etiología , Fallo Renal Crónico/cirugía , Trasplante de Riñón/efectos adversos , ARN Interferente Pequeño
7.
Pediatr Nephrol ; 36(8): 2217-2226, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33830344

RESUMEN

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by hepatic overproduction of oxalate and often results in kidney failure. Liver-kidney transplantation is recommended, either combined (CLKT) or sequentially performed (SLKT). The merits of SLKT and the place of an isolated kidney transplant (KT) in selected patients are unsettled. We systematically reviewed the literature focusing on patient and graft survival rates in relation to the chosen transplant strategy. METHODS: We searched MEDLINE and Embase using a broad search string, consisting of the terms 'transplantation' and 'hyperoxaluria'. Studies reporting on at least four transplanted patients were selected for quality assessment and data extraction. RESULTS: We found 51 observational studies from 1975 to 2020, covering 756 CLKT, 405 KT and 89 SLKT, and 51 pre-emptive liver transplantations (PLT). Meta-analysis was impossible due to reported survival probabilities with varying follow-up. Two individual high-quality studies showed an evident kidney graft survival advantage for CLKT versus KT (87% vs. 14% at 15 years, p<0.05) with adjusted HR for graft failure of 0.14 (95% confidence interval: 0.05-0.41), while patient survival was similar. Three other high-quality studies reported 5-year kidney graft survival rates of 48-89% for CLKT and 14-45% for KT. PLT and SLKT yielded 1-year patient and graft survival rates up to 100% in small cohorts. CONCLUSIONS: Our study suggests that CLKT leads to superior kidney graft survival compared to KT. However, evidence for merits of SLKT or for KT in pyridoxine-responsive patients was scarce, which warrants further studies, ideally using data from a large international registry.


Asunto(s)
Hiperoxaluria Primaria , Trasplante de Riñón , Trasplante de Hígado , Supervivencia de Injerto , Humanos , Hiperoxaluria Primaria/cirugía , Trasplante de Riñón/efectos adversos , Estudios Retrospectivos , Resultado del Tratamiento
9.
Pediatr Transplant ; 25(4): e14003, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33742750

RESUMEN

Combined liver-kidney transplantation is a therapeutic option for children affected by type 1 primary hyperoxaluria. Persistently high plasma oxalate levels may lead to kidney graft failure. It is debated whether pre-emptive liver transplantation, followed by kidney transplantation, might be a better strategy to reduce kidney graft loss. Our experience of 6 pediatric combined liver-kidney transplants for primary hyperoxaluria type 1 in pediatric recipients was retrospectively analyzed. Plasma oxalate levels were monitored before and after transplantation. All the recipients were on hemodialysis at transplantation. Median [IQR] recipient's age at transplantation was 11 [1-14] years; in all cases, a compatible graft from a pediatric brain-dead donor aged 8 [2-16] years was used. In a median follow-up of 7 [2-19] years after combined liver-kidney transplantation, no child died and no liver graft failure was observed; three kidney grafts were lost, due to chronic rejection, primary non-function, and early renal oxalate accumulation. Liver and kidney graft survival remained stable at 1, 3, and 5 years, at 100% and 85%, respectively. Kidney graft loss was the major complication in our series. Risk is higher with very young, low-weight donors. The impact of treatment with glyoxalate pathway enzyme inhibitors treatment in children with advanced disease as well as of donor kidney preservation by ex vivo machine perfusion needs to be evaluated. At present, a case-by-case discussion is needed to establish an optimal treatment strategy.


Asunto(s)
Hiperoxaluria Primaria/cirugía , Trasplante de Riñón/métodos , Trasplante de Hígado/métodos , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Supervivencia de Injerto , Humanos , Lactante , Estimación de Kaplan-Meier , Modelos Logísticos , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
10.
Exp Clin Transplant ; 19(5): 445-449, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-31580236

RESUMEN

OBJECTIVES: Primary hyperoxaluria type 1 is an autosomal recessive disorder that causes overproduction and urinary excretion of oxalate. Liver transplant has been suggested as a treatment for primary hyperoxaluria type 1 since the defective enzyme is expressed in the liver. This study aimed to investigate results of combined liver and kidney, sequential, and preemptive livertransplantin patients with primary hyperoxaluria type 1. MATERIALS AND METHODS: In this cohort study, we followed patients with primary hyperoxaluria type 1 who underwent liver transplant at our centerin Shiraz, Iran. Clinical and laboratory data of patients were gathered, and major outcomes, including renal failure after liver transplant, rejection, and mortality were recorded. Survival of patients was analyzed by the Kaplan-Meier method. RESULTS: Our study included 24 patients. There were 16 male (66.6%) and 8 female (33.33%) patients. Thirteen patients were in the pediatric age group (age < 18 y), and 11 patients were adults (age ≥ 18 y). Thirteen patients underwent sequential transplant, 8 patients underwent combined liver and kidney transplant, and 3 patients underwent preemptive transplant. All patients received organs from deceased donors. There were no statistically significant differences in mortality, rejection, and hemodialysis after transplant between those with sequential transplant and those with combined liver and kidney transplant (P > .05). CONCLUSIONS: Liver transplant can be considered a treatment for patients with primary hyperoxaluria type 1. Combined liver and kidney transplant and preemptive liver transplant could be proper options for these patients.


Asunto(s)
Hiperoxaluria Primaria/cirugía , Trasplante de Riñón , Trasplante de Hígado , Adulto , Niño , Estudios de Cohortes , Femenino , Humanos , Riñón , Hígado , Masculino
11.
Exp Clin Transplant ; 18(6): 744-748, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33187466

RESUMEN

Primary oxalosis is a rare hereditary disorder of metabolism resulting in accumulation of calcium oxalate in almost all tissues of the body. All published data point out the improvement of cardiac function after transplant. Here, we report the first case in the literature of an 8-year-old patient with primary oxalosis in which oxalosis implantations increased in cardiac tissue after liver transplant and manifested as new-onset ventricular tachycardia and cardiomyopathy, leading to death.


Asunto(s)
Oxalato de Calcio/metabolismo , Cardiomiopatías/etiología , Hiperoxaluria Primaria/cirugía , Trasplante de Hígado/efectos adversos , Miocardio/metabolismo , Taquicardia Ventricular/etiología , Cardiomiopatías/diagnóstico , Cardiomiopatías/metabolismo , Cardiomiopatías/terapia , Niño , Cristalización , Resultado Fatal , Humanos , Hiperoxaluria Primaria/complicaciones , Hiperoxaluria Primaria/diagnóstico , Hiperoxaluria Primaria/metabolismo , Donadores Vivos , Masculino , Miocardio/patología , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/metabolismo , Taquicardia Ventricular/terapia , Resultado del Tratamiento
12.
BMC Gastroenterol ; 20(1): 208, 2020 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-32620094

RESUMEN

BACKGROUND: Primary hyperoxaluria (PH) is an inherited disease lacking of hepatic oxalic acid metabolic enzymes which could lead to irreverisible renal damage. Currently, liver-kidney transplantation is a curative but highly invasive therapy used to treat patients with PH. However, limited studies have focused on combined liver-kidney transplantation (CLKT) and sequential liver and kidney transplantation (SLKT) in patients with PH. METHODS: The present study included 201 patients with PH who received both liver and kidney transplants and who were listed on the Scientific Registry of Transplant Recipients from 1987 to 2018. According to the liver-kidney transplant procedure, patients were separated into a CLKT group and a SLKT group. Patient demographics and transplant outcomes were assessed in each group. RESULTS: Compared with the SLKT group, The CLKT group got a worse pretransplant dialysis condition in both the proportion of patients under pretransplant dialysis (p = 0.048) and the duration of the pretransplant dialysis (p < 0.001). The SLKT group got higher human leukocyte antigen mismatch score of kidney donor (p < 0.001) and liver donor (p = 0.003). The CLKT group utilized higher proportion (98.9%) of organs from a single deceased donor, while the SLKT group utilized 75.0% of organs from deceased liver donors and only 35.0% of organs from deceased kidney donors (p < 0.001). Kidney function measured by serum creatinine concentration before liver transplantation (LT) or CLKT was similar (p = 0.305) between groups. Patient survival was not significantly different between the two groups (p = 0.717) and liver (p = 0.685) and kidney (p = 0.464) graft outcomes were comparable between the two groups. CONCLUSIONS: SLKT seems to be an alternative option with strict condition for CLKT, further exploration about the SLKT is still required.


Asunto(s)
Hiperoxaluria Primaria , Trasplante de Riñón , Trasplante de Hígado , Supervivencia de Injerto , Humanos , Hiperoxaluria Primaria/cirugía , Riñón , Hígado , Sistema de Registros , Diálisis Renal , Estudios Retrospectivos , Receptores de Trasplantes , Resultado del Tratamiento
14.
J Laparoendosc Adv Surg Tech A ; 29(12): 1616-1622, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31687885

RESUMEN

Background: Sequential liver-kidney transplantation (SeqLKT) from the same living donor has shown excellent results in children with primary hyperoxaluria type 1 (PH1), yet its experience is limited due to the invasiveness of two major procedures for liver-kidney procurement in a single donor. Despite laparoscopic nephrectomy and hepatic left lateral sectionectomy (LLS) being considered standard procedures in living donation, the sequential use of the two laparoscopic approaches in the same living donor has never been reported. Methods: Herein, we present the first two case series of laparoscopic liver-kidney procurement in the same living donor for SeqLKT in children with PH1 and review of the current literature on this topic. Results: In the first case, a 15-month-old boy received a SeqLKT from his 32-year-old mother, who underwent a laparoscopic LLS and, after 8 months, a laparoscopic left nephrectomy. In the second case, a 34-month-old boy received a SeqLKT from his 40-year-old father who underwent laparoscopic LLS followed by hand-assisted right nephrectomy after 4 months. Both donors had uneventful postoperative courses and were discharged within 5 days from each surgery. The first recipient had no complication; the second child after liver transplantation developed a partial thrombosis of the inferior vena cava, which did not preclude the sequential kidney transplantation. After 12 months, donors and recipients displayed normal liver and renal functions. Conclusions: Sequential laparoscopic liver-kidney procurement in the same living donor is safe and feasible, and might be considered as a possible strategy to promote SeqLKT in children with PH1 from the same living donor.


Asunto(s)
Hiperoxaluria Primaria/cirugía , Trasplante de Riñón/métodos , Laparoscopía/métodos , Trasplante de Hígado/métodos , Donadores Vivos , Obtención de Tejidos y Órganos/métodos , Preescolar , Humanos , Lactante , Masculino , Padres , Resultado del Tratamiento
15.
Urology ; 134: e3-e4, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31585197

RESUMEN

Primary Hyperoxaluria is a rare autosomal recessive hereditary disorder due to deficient alanine-glyoxylate aminotransferase enzyme with defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Deposition of excessive calcium oxalates in nephrons leads to crystallization (nephrocalcinosis) which increases risk for end-stage renal disease. We are presenting a case of primary hyperoxaluria type I confirmed with genetic studies.


Asunto(s)
Hiperoxaluria Primaria , Riñón/diagnóstico por imagen , Nefrocalcinosis , Oxalatos , Transaminasas/genética , Humanos , Hiperoxaluria Primaria/diagnóstico , Hiperoxaluria Primaria/genética , Hiperoxaluria Primaria/cirugía , Procesamiento de Imagen Asistido por Computador/métodos , Lactante , Trasplante de Riñón/métodos , Trasplante de Hígado/métodos , Masculino , Mutación , Nefrocalcinosis/diagnóstico por imagen , Nefrocalcinosis/etiología , Oxalatos/sangre , Oxalatos/metabolismo , Pronóstico , Diálisis Renal/métodos , Insuficiencia Renal/diagnóstico , Insuficiencia Renal/etiología , Insuficiencia Renal/terapia , Tomografía Computarizada por Rayos X/métodos , Ultrasonografía/métodos
16.
Am J Transplant ; 19(12): 3328-3334, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31152479

RESUMEN

In primary hyperoxaluria type 1 (PH1), systemic oxalate deposition (oxalosis) in end-stage renal disease (ESRD) is associated with high morbidity and mortality, particularly in children with infantile oxalosis (IO). Combined liver and kidney transplantation (CLKT) is the only curative treatment option in these patients. After CLKT, systemic oxalosis decreases continuously, although only insufficient data are available regarding oxalate retinopathy (ROx), leading to severe visual impairment. We analyzed long-term follow-up data of ROx in 13 patients undergoing CLKT for PH1 at our center between 1998 and 2018. Age at transplantation was 1.3-14.2 years, including nine patients with IO. We performed visual acuity testing, slit lamp investigation, funduscopy, fundus photography, and spectral-domain optical coherence tomography (SD-OCT) imaging. Severe (grade 2-4) ROx was present in all nine children with IO but not in the four patients developing ESRD in adolescence. A significant negative correlation was found between age at onset of ESRD and grade of ROx (r = -0.66; P < .001). Notably, follow-up assessment after CLKT demonstrated no regression of ROx after a median of 5.3 years (range 0.6-14). The data show that despite early CLKT in IO, ROx is irreversible and the concomitant visual deterioration occurs prior to transplantation.


Asunto(s)
Rechazo de Injerto/etiología , Hiperoxaluria Primaria/cirugía , Trasplante de Hígado/efectos adversos , Oxalatos/metabolismo , Complicaciones Posoperatorias/etiología , Enfermedades de la Retina/etiología , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Rechazo de Injerto/metabolismo , Rechazo de Injerto/patología , Supervivencia de Injerto , Humanos , Lactante , Masculino , Complicaciones Posoperatorias/metabolismo , Complicaciones Posoperatorias/patología , Pronóstico , Enfermedades de la Retina/metabolismo , Enfermedades de la Retina/patología , Estudios Retrospectivos , Factores de Riesgo
17.
Pediatr Transplant ; 23(4): e13406, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30932299

RESUMEN

LKT is the only effective treatment for PH1 because it replaces both the source (liver) and the target (kidney) of the disease. Most studies report on LKT in patients with PH1 from deceased donors. This study reports on five patients who underwent LKT from a single living  donor between April 2017 and March 2018. Combined LKT was performed for 1 patient and sequential LKT for the remainder. The median age of the patients at the time of diagnosis and transplantation was 5.5 (0.3-18) and 10 (6-21) years, respectively. All patients received left lateral liver segment transplantation, except one patient who received right liver lobe transplantation. No liver graft loss was observed, and liver function tests were stable at the final evaluation of all patients. Renal function tests of the patients were also stable at the final assessment, except for the young adult patient. None of the patients suffered from acute rejection. One patient died at the second month following liver transplantation due to severe pneumonia and sepsis. This study concludes that combined or sequential LKT from a single living donor can be safely performed and provides encouraging results for even the youngest and smallest patients with PH1.


Asunto(s)
Hiperoxaluria Primaria/cirugía , Trasplante de Riñón/métodos , Trasplante de Hígado/métodos , Obtención de Tejidos y Órganos/métodos , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Donadores Vivos , Masculino , Neumonía/complicaciones , Estudios Retrospectivos , Sepsis/complicaciones , Resultado del Tratamiento , Adulto Joven
18.
Pediatr Transplant ; 23(1): e13313, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30475440

RESUMEN

Primary hyperoxalurias are rare inborn errors of metabolism with deficiency of hepatic enzymes that lead to excessive urinary oxalate excretion and overproduction of oxalate which is deposited in various organs. Hyperoxaluria results in serious morbid-ity, end stage kidney disease (ESKD), and mortality if left untreated. Combined liver kidney transplantation (CLKT) is recognized as a management of ESKD for children with hyperoxaluria type 1 (PH1). This study aimed to report outcome of CLKT in a pediatric cohort of PH1 patients, through retrospective analysis of data of 8 children (2 girls and 6 boys) who presented by PH1 to Wadi El Nil Pediatric Living Related Liver Transplant Unit during 2001-2017. Mean age at transplant was 8.2 ± 4 years. Only three of the children underwent confirmatory genotyping. Three patients died prior to surgery on waiting list. The first attempt at CLKT was consecutive, and despite initial successful liver transplant, the girl died of biliary peritonitis prior to scheduled renal transplant. Of the four who underwent simultaneous CLKT, only two survived and are well, one with insignificant complications, and other suffered from abdominal Burkitt lymphoma managed by excision and resection anastomosis, four cycles of rituximab, cyclophosphamide, vincristine, and prednisone. The other two died, one due to uncontrollable bleeding within 36 hours of procedure, while the other died awaiting renal transplant after loss of renal graft to recurrent renal oxalosis 6 months post-transplant. PH1 with ESKD is a rare disease; simultaneous CLKT offers good quality of life for afflicted children. Graft shortage and renal graft loss to oxalosis challenge the outcome.


Asunto(s)
Hiperoxaluria Primaria/cirugía , Trasplante de Riñón/métodos , Trasplante de Hígado/métodos , Niño , Preescolar , Femenino , Estudios de Seguimiento , Supervivencia de Injerto , Humanos , Hiperoxaluria Primaria/mortalidad , Masculino , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento
20.
Spec Care Dentist ; 38(4): 259-265, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29882304

RESUMEN

AIMS: The aim of this study is to report the case of the orthodontic treatment in a patient affected by primary hyperoxaluria type 1 and subjected to a combinate liver-kidney transplant. METHODS AND RESULTS: The 9-year patient was admitted to our department for the presence of facial dysmorphism. The patient was affected by primary hyperoxaluria type 1 and has undergone a combined liver-kidney transplantation. At the time of the visit, he was in treatment with immunosuppressive drugs and received a corticosteroid and an antibiotic therapy monthly. An intraoral and extraoral examination, as well as radiographic and model analysis, was performed in order to define an accurate diagnosis and a proper rehabilitation planning. An orthopedic-orthodontic treatment was performed and satisfactory final results obtained. A laser gingivectomy was also realized for eliminate the gengival hyperplasia probably induced by cyclosporine assumption. Both skeletal and dental relationships were improved by the treatment, reaching a good dental arches alignment. CONCLUSION: An early diagnosis, as well as a multidisciplinary approach, is very important in patients with rare diseases. An appropriate treatment allowed us to achieve acceptable results and improve the patient quality of life.


Asunto(s)
Hiperoxaluria Primaria/complicaciones , Enfermedades de la Boca/etiología , Enfermedades de la Boca/terapia , Ortodoncia Correctiva/métodos , Niño , Hiperplasia Gingival/inducido químicamente , Hiperplasia Gingival/diagnóstico por imagen , Hiperplasia Gingival/cirugía , Humanos , Hiperoxaluria Primaria/cirugía , Trasplante de Riñón , Trasplante de Hígado , Masculino , Maloclusión de Angle Clase III/diagnóstico por imagen , Maloclusión de Angle Clase III/terapia , Enfermedades de la Boca/diagnóstico por imagen , Radiografía Panorámica
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