Journal of Pediatric Gastroenterology and Nutrition, Nov 1, 2002
Intestinal lymphangiectasia and other abnormalities of lymphatic drainage from the gastrointestin... more Intestinal lymphangiectasia and other abnormalities of lymphatic drainage from the gastrointestinal tract result in protein-losing enteropathy. Recently, hypoplasia of intestinal lymphatics has been described as an additional cause of protein-losing enteropathy presenting in infancy. We report the case of a child, with features consistent with intestinal lymphatic hypoplasia, in whom non-immune hydrops, requiring repeated intervention, was detected at 18 weeks’ gestation and who developed protein-losing enteropathy post-natally.
BackgroundPediatric retransplantation is an accepted practice for graft failure and complications... more BackgroundPediatric retransplantation is an accepted practice for graft failure and complications in Australasia. As 15% of children require a third transplant, this is a growing cohort with limited data in the literature.MethodsWe review nine patients from the commencement of our transplantation program in 1986 up to 2020 assessing demographics, prognosis, and outcome measures.ResultsThird transplant patient survival was comparative to first and second transplant patient survival at 5 years. All deaths were within the post‐operative period and secondary to sepsis. Operative times and transfusion volumes were increased at third transplant (1.8 and 4.5 times compared to first transplant, respectively). Learning difficulties and psychological disturbances were prevalent (83% and 66.6%, respectively).ConclusionsWhile recent mortality outcomes appear comparable to undergoing a second liver transplant, third transplant operations were more complex. Neurological impairment and psychological disturbance appear to be prevalent and need to be considered in pre‐transplant counseling.
BackgroundInborn errors of metabolism (IEM) are a diverse group of genetic disorders that can res... more BackgroundInborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT.AimTo review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019.MethodsRetrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post‐LT.ResultsTwenty‐four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri‐operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients.ConclusionsReferral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by mutation in th... more Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by mutation in the ALDOB gene, which leads to aldolase B deficiency. Fructose ingestion results in accumulation of substrates fructose 1-phosphate and fructose 1,6-biphosphate, leading to impairment of glycolytic and gluconeogenic pathways(1,2) . Patients with HFI typically present with vomiting, hypoglycemia, hepatomegaly, acute liver failure, renal tubular dysfunction and failure to thrive(1,2) .
... Peter B. McIntyre, Ph.D., FRACP. Joanne Morris, MBBS. Bruce Fasher, FRCP, FRACP. Department o... more ... Peter B. McIntyre, Ph.D., FRACP. Joanne Morris, MBBS. Bruce Fasher, FRCP, FRACP. Department of Immunology and Infectious Diseases (MOS, PBM). Accident and Emergency Department (JM, BF). Royal Alexandra Hospital for Children; Parramatta, Australia. 1. Mathieu J ...
Journal of Pediatric Gastroenterology and Nutrition, Nov 1, 2002
Intestinal lymphangiectasia and other abnormalities of lymphatic drainage from the gastrointestin... more Intestinal lymphangiectasia and other abnormalities of lymphatic drainage from the gastrointestinal tract result in protein-losing enteropathy. Recently, hypoplasia of intestinal lymphatics has been described as an additional cause of protein-losing enteropathy presenting in infancy. We report the case of a child, with features consistent with intestinal lymphatic hypoplasia, in whom non-immune hydrops, requiring repeated intervention, was detected at 18 weeks’ gestation and who developed protein-losing enteropathy post-natally.
BackgroundPediatric retransplantation is an accepted practice for graft failure and complications... more BackgroundPediatric retransplantation is an accepted practice for graft failure and complications in Australasia. As 15% of children require a third transplant, this is a growing cohort with limited data in the literature.MethodsWe review nine patients from the commencement of our transplantation program in 1986 up to 2020 assessing demographics, prognosis, and outcome measures.ResultsThird transplant patient survival was comparative to first and second transplant patient survival at 5 years. All deaths were within the post‐operative period and secondary to sepsis. Operative times and transfusion volumes were increased at third transplant (1.8 and 4.5 times compared to first transplant, respectively). Learning difficulties and psychological disturbances were prevalent (83% and 66.6%, respectively).ConclusionsWhile recent mortality outcomes appear comparable to undergoing a second liver transplant, third transplant operations were more complex. Neurological impairment and psychological disturbance appear to be prevalent and need to be considered in pre‐transplant counseling.
BackgroundInborn errors of metabolism (IEM) are a diverse group of genetic disorders that can res... more BackgroundInborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT.AimTo review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019.MethodsRetrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post‐LT.ResultsTwenty‐four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri‐operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients.ConclusionsReferral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by mutation in th... more Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by mutation in the ALDOB gene, which leads to aldolase B deficiency. Fructose ingestion results in accumulation of substrates fructose 1-phosphate and fructose 1,6-biphosphate, leading to impairment of glycolytic and gluconeogenic pathways(1,2) . Patients with HFI typically present with vomiting, hypoglycemia, hepatomegaly, acute liver failure, renal tubular dysfunction and failure to thrive(1,2) .
... Peter B. McIntyre, Ph.D., FRACP. Joanne Morris, MBBS. Bruce Fasher, FRCP, FRACP. Department o... more ... Peter B. McIntyre, Ph.D., FRACP. Joanne Morris, MBBS. Bruce Fasher, FRCP, FRACP. Department of Immunology and Infectious Diseases (MOS, PBM). Accident and Emergency Department (JM, BF). Royal Alexandra Hospital for Children; Parramatta, Australia. 1. Mathieu J ...
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