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PA79 PSYCHOSOCIAL DISTRESS IN CHILDREN WITH INTESTINAL FAILURE AND THEIR FAMILIES
S374
XVII National Congress SIGENP Abstracts / Digestive and Liver Disease 42S (2010), S321–S376
Conclusion: This observation supports that also in pediatric liver transplant recipients with de novo HBV infection, LAM therapy is of no value, while the combined therapy with LAM and TDF seems able to achieve a favorable sustained virological response. Further studies are required.
facilitate early diagnosis, to ensure appropriate treatment and to avoid the risk of underestimate it.
PA79 PSYCHOSOCIAL DISTRESS IN CHILDREN WITH INTESTINAL FAILURE AND THEIR FAMILIES
PA78 WILSON’S DISEASES: SINGLE CENTER’S 1 YEAR OVERALL EXPERIENCE A. Pietrobattista a , M. Candusso a , A. Alterio a , M. Sartorelli a , P. Francalanci b , D. Comparcola a , V. Nobili a , G. Torre a a Gastroenterology
Hospital, Rome;
Hepatology and Nutrition Unit, Bambino Gesù Children Unit, Bambino Gesù Children Hospital, Rome
b Pathology
Background: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. This rare disease is caused by mutations in the gene encoding a copper-transporting P-type ATPase, which is important for copper excretion into bile, leading to copper accumulation in the liver. Toxic copper concentrations can also be found in the brain and kidney, and clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. WD has a wide spectrum of clinical manifestations. Affected children may be entirely asymptomatic and the diagnosis problematic. The objective of this study is to present our single center experience over one year with WD, underlying his different presentations. Patients and methods: In the last 12 months (from april 2009 to april 2010) 5 patients (3 males) fulfilled criteria for the diagnosis of WD. Evaluation included detailed physical examination, conventional laboratory testing (urinary copper excretion, levels of serum ceruloplasmin), genetic analysis, and liver biopsy. 3 patients presented isolated liver disease, 1 had mixed neurological and hepatic involvement and 1 presented with acute liver failure. All 3 patients with cirrothic liver underwent orthotopic liver transplantation (OLT). Results: The median age at diagnosis of WD was 10.8 (range, 7-16). All patients had hepatic manifestations of the disease when diagnosed: cirrhosis (2), chronic hepatitis (2) and fulminant hepatic failure (1). Two patients were asymptomatic at diagnosis. 1 of the symptomatic patients presented the typical neurological symptoms, first with changes in behaviour and deterioration in schoolwork evolving to lack of motor coordination, drooling, dysarthria, dystonia, and spasticity with the deeping of the disease. At diagnosis, just the patient with neurological manifestation had positive Kayser Fleischer ring. Serum ceruloplasmine levels were decreased in all patients, median value 9.2 mg/dl (range 2-16), with lower levels in cirrhotic patients. The 24-h excretion of copper in urine was raised in all patients, >75 μg/24 hours before (median value 360 μg/24) or >1400 μg/24 hours after penicillamine challenge. Genetic analysis showed double eterozighosis in 3/5, the other 2 patients had just 1 recognized mutation. As diagnostic important proved all patients had the copper content of more than 250 μg/g hepatic dry weight. We started zinc therapy (zinc acetate) in all the patients at the time of diagnosis, just in the one with neurological symptoms with added a copper chelator drug as Trientine. None of 3 cirrhotic patients recovered with therapy and avoided liver transplantation. In the 2 asymptomatic patients zinc acetate therapy was started and well tolerated. In those 2 patients liver function tests showed improvement after 3 weeks of therapy reaching normal values in 2 months for both. The indication for liver transplantation was acute on chronic (2/3) or fulminant, liver failure (1/3). The median follow-up after liver transplantation was 1 year, 1 patient died for perioperative complications (66% patient survival). Copper metabolism returned to normal in all patients. None of the transplanted patients with exclusive liver disease required chelation treatment after liver transplantation and none developed neurological symptoms of Wilson’s disease. Conclusion: Detection of WD in children remains very difficult also due low frequency of cases, however our 1 year experience show higher frequency than reported in the literature. The most important investigation is liver biopsy with the assessment of liver copper. Genetic analysis may help in doubtful cases. Ceruloplasmine, haemoglobin, ALT, ALP and plasma albumin were significantly different between fulminant and non-fulminant WD and could be used as indirect markers in evaluation of urgent OLT. It is important to be aware of the different manifestations of Wilson’s disease in the pediatric population, in order to make appropriate evaluations in a timely manner to
A. Giannattasio, A. Lo Vecchio, G. Griso, N. Baiano, C. Storace, M. Caiazzo, G. Ranucci, M.I. Spagnuolo, A. Guarino Department of Pediatrics, University Federico II, Naples, Italy Background and objectives: Children with intestinal failure (IF) have now a long expectation of life thanks to improvements in nutritional support and parenteral nutrition (PN). Nevertheless, there are psychological consequences and associated restrictions to the lives in patients with IF. There is few data available on the psychologic problems in children with IF and their families. We investigated the psychosocial distress in families of children with IF seen at an Italian reference center for pediatric artificial nutrition. Patients and methods: Parents of children with IF received the pediatric checklist of the International Classification of Functioning, Disability and Health (ICF), the psychological general well-being index (PGWB) and the State Trait Anxiety Inventory (STAI). The ICF evaluates health status and environmental and social factors associated with health. It encompasses 4 major areas: impairments of body structures; impairments of body functions; environmental factors; activity limitations and restrictions to social life. The PGWB evaluates the psychological status of a person and it includes 6 domains (maximum total score 110=excellent level of well-being). The STAI estimates the subjective evaluation of state and trait anxiety and it includes 20 items (reference normal value <40/80). Results: Families of 16 patients with IF (12 males; 7.2±4.7 years, range 2-18) were recruited during a 3-month period. All had received a period of PN (total duration of PN 42±37 months) and 6 of them were currently on home PN. According to the ICF tool, the major impairment of body structures was related to the gastrointestinal system. The impairment was perceived as mild in 8 cases, severe in 3 cases and total in 5 cases. The main impairments of body function concerned defecation (n=9, 56%), appetite (n=8, 50%), digestion (n=8, 50%) and sleep (n=5, 31%). The main environmental factors that were perceived to affect the quality of life (=barriers) of children with IF were inadequate support by other family members (n=6, 37%), by relatives (n=9, 56%), by friends (n=7, 44%) and by political, educational and social institutions (n=5, 31%). Finally, the main reported activity limitations and participation restrictions were related to eating (3/16, 19%), daily life functioning (n=3, 19%) and participation to school activities (n=3, 19%). However, the degree of limitations was mild in the majority of cases. Mean total score of the PGWB was 72/110, indicating a medium level of stress in the majority of cases. However, 4 (25%) families reported a very low total score (<55), suggesting an impaired well-being. The most impaired domain was that related to anxiety status (score ≤13/25 in 8 cases, 50%). Finally, STAI detected a high state of anxiety in 5/16 (31%) families. Conclusions: Although most of children with IF had a satisfactory social activity, they and their families experience significant stressful events related to the need of PN, the presence of a stoma, the need of period clinical, laboratory and nutritional evaluation, the presence of growth impairment. The ICF instrument represents a useful tool to assess physical, physiological and social domains of functioning and well-being of growing children with IF. The identification of psychosocial should become part of the routine clinical management of these patients in order to setup strategies and to evaluate the impact of therapy interventions.
XVII National Congress SIGENP Abstracts / Digestive and Liver Disease 42S (2010), S321–S376
Conclusion: This observation supports that also in pediatric liver transplant recipients with de novo HBV infection, LAM therapy is of no value, while the combined therapy with LAM and TDF seems able to achieve a favorable sustained virological response. Further studies are required.
facilitate early diagnosis, to ensure appropriate treatment and to avoid the risk of underestimate it.
PA79 PSYCHOSOCIAL DISTRESS IN CHILDREN WITH INTESTINAL FAILURE AND THEIR FAMILIES
PA78 WILSON’S DISEASES: SINGLE CENTER’S 1 YEAR OVERALL EXPERIENCE A. Pietrobattista a , M. Candusso a , A. Alterio a , M. Sartorelli a , P. Francalanci b , D. Comparcola a , V. Nobili a , G. Torre a a Gastroenterology
Hospital, Rome;
Hepatology and Nutrition Unit, Bambino Gesù Children Unit, Bambino Gesù Children Hospital, Rome
b Pathology
Background: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. This rare disease is caused by mutations in the gene encoding a copper-transporting P-type ATPase, which is important for copper excretion into bile, leading to copper accumulation in the liver. Toxic copper concentrations can also be found in the brain and kidney, and clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. WD has a wide spectrum of clinical manifestations. Affected children may be entirely asymptomatic and the diagnosis problematic. The objective of this study is to present our single center experience over one year with WD, underlying his different presentations. Patients and methods: In the last 12 months (from april 2009 to april 2010) 5 patients (3 males) fulfilled criteria for the diagnosis of WD. Evaluation included detailed physical examination, conventional laboratory testing (urinary copper excretion, levels of serum ceruloplasmin), genetic analysis, and liver biopsy. 3 patients presented isolated liver disease, 1 had mixed neurological and hepatic involvement and 1 presented with acute liver failure. All 3 patients with cirrothic liver underwent orthotopic liver transplantation (OLT). Results: The median age at diagnosis of WD was 10.8 (range, 7-16). All patients had hepatic manifestations of the disease when diagnosed: cirrhosis (2), chronic hepatitis (2) and fulminant hepatic failure (1). Two patients were asymptomatic at diagnosis. 1 of the symptomatic patients presented the typical neurological symptoms, first with changes in behaviour and deterioration in schoolwork evolving to lack of motor coordination, drooling, dysarthria, dystonia, and spasticity with the deeping of the disease. At diagnosis, just the patient with neurological manifestation had positive Kayser Fleischer ring. Serum ceruloplasmine levels were decreased in all patients, median value 9.2 mg/dl (range 2-16), with lower levels in cirrhotic patients. The 24-h excretion of copper in urine was raised in all patients, >75 μg/24 hours before (median value 360 μg/24) or >1400 μg/24 hours after penicillamine challenge. Genetic analysis showed double eterozighosis in 3/5, the other 2 patients had just 1 recognized mutation. As diagnostic important proved all patients had the copper content of more than 250 μg/g hepatic dry weight. We started zinc therapy (zinc acetate) in all the patients at the time of diagnosis, just in the one with neurological symptoms with added a copper chelator drug as Trientine. None of 3 cirrhotic patients recovered with therapy and avoided liver transplantation. In the 2 asymptomatic patients zinc acetate therapy was started and well tolerated. In those 2 patients liver function tests showed improvement after 3 weeks of therapy reaching normal values in 2 months for both. The indication for liver transplantation was acute on chronic (2/3) or fulminant, liver failure (1/3). The median follow-up after liver transplantation was 1 year, 1 patient died for perioperative complications (66% patient survival). Copper metabolism returned to normal in all patients. None of the transplanted patients with exclusive liver disease required chelation treatment after liver transplantation and none developed neurological symptoms of Wilson’s disease. Conclusion: Detection of WD in children remains very difficult also due low frequency of cases, however our 1 year experience show higher frequency than reported in the literature. The most important investigation is liver biopsy with the assessment of liver copper. Genetic analysis may help in doubtful cases. Ceruloplasmine, haemoglobin, ALT, ALP and plasma albumin were significantly different between fulminant and non-fulminant WD and could be used as indirect markers in evaluation of urgent OLT. It is important to be aware of the different manifestations of Wilson’s disease in the pediatric population, in order to make appropriate evaluations in a timely manner to
A. Giannattasio, A. Lo Vecchio, G. Griso, N. Baiano, C. Storace, M. Caiazzo, G. Ranucci, M.I. Spagnuolo, A. Guarino Department of Pediatrics, University Federico II, Naples, Italy Background and objectives: Children with intestinal failure (IF) have now a long expectation of life thanks to improvements in nutritional support and parenteral nutrition (PN). Nevertheless, there are psychological consequences and associated restrictions to the lives in patients with IF. There is few data available on the psychologic problems in children with IF and their families. We investigated the psychosocial distress in families of children with IF seen at an Italian reference center for pediatric artificial nutrition. Patients and methods: Parents of children with IF received the pediatric checklist of the International Classification of Functioning, Disability and Health (ICF), the psychological general well-being index (PGWB) and the State Trait Anxiety Inventory (STAI). The ICF evaluates health status and environmental and social factors associated with health. It encompasses 4 major areas: impairments of body structures; impairments of body functions; environmental factors; activity limitations and restrictions to social life. The PGWB evaluates the psychological status of a person and it includes 6 domains (maximum total score 110=excellent level of well-being). The STAI estimates the subjective evaluation of state and trait anxiety and it includes 20 items (reference normal value <40/80). Results: Families of 16 patients with IF (12 males; 7.2±4.7 years, range 2-18) were recruited during a 3-month period. All had received a period of PN (total duration of PN 42±37 months) and 6 of them were currently on home PN. According to the ICF tool, the major impairment of body structures was related to the gastrointestinal system. The impairment was perceived as mild in 8 cases, severe in 3 cases and total in 5 cases. The main impairments of body function concerned defecation (n=9, 56%), appetite (n=8, 50%), digestion (n=8, 50%) and sleep (n=5, 31%). The main environmental factors that were perceived to affect the quality of life (=barriers) of children with IF were inadequate support by other family members (n=6, 37%), by relatives (n=9, 56%), by friends (n=7, 44%) and by political, educational and social institutions (n=5, 31%). Finally, the main reported activity limitations and participation restrictions were related to eating (3/16, 19%), daily life functioning (n=3, 19%) and participation to school activities (n=3, 19%). However, the degree of limitations was mild in the majority of cases. Mean total score of the PGWB was 72/110, indicating a medium level of stress in the majority of cases. However, 4 (25%) families reported a very low total score (<55), suggesting an impaired well-being. The most impaired domain was that related to anxiety status (score ≤13/25 in 8 cases, 50%). Finally, STAI detected a high state of anxiety in 5/16 (31%) families. Conclusions: Although most of children with IF had a satisfactory social activity, they and their families experience significant stressful events related to the need of PN, the presence of a stoma, the need of period clinical, laboratory and nutritional evaluation, the presence of growth impairment. The ICF instrument represents a useful tool to assess physical, physiological and social domains of functioning and well-being of growing children with IF. The identification of psychosocial should become part of the routine clinical management of these patients in order to setup strategies and to evaluate the impact of therapy interventions.