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Chapter 9 - Medical and nutritional management of cholestasis in infants and children
- from Section II - Cholestatic liver disease
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- By Andrew P. Feranchak, Department of Pediatrics, UT Southwestern Medical Center and Children’s Medical Center, Dallas, TX, USA, Frederick J. Suchy, University of Colorado Medical Center , Ronald J. Sokol, University of Colorado Medical Center
- Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
-
- Book:
- Liver Disease in Children
- Published online:
- 05 March 2014
- Print publication:
- 20 February 2014, pp 111-139
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- Chapter
- Export citation
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Summary
Introduction
When first encountering an infant or child with cholestatic liver disease, it is essential that diagnostic evaluation be conducted promptly in order to (1) recognize disorders amenable either to specific medical therapy (e.g. galactosemia, tyrosinemia, hypothyroidism, urinary tract infection) or to early surgical intervention (e.g. biliary atresia, choledochal cyst); (2) institute treatment directed toward enhancing bile flow; and (3) prevent and treat the varied medical, nutritional, and emotional consequences of chronic liver disease. Because many of the treatable causes require early diagnosis and prompt institution of therapy, the evaluation of the cholestatic infant should never be delayed. Although “physiologic cholestasis” (hypercholemia or elevated bile acids) may be present in the infant, there is no state of “physiologic conjugated hyperbilirubinemia”. For the jaundiced infant, historical and clinical information such as color of the stools, birth weight, and presence of hepatomegaly may provide important clues as to the etiology of cholestasis. Consanguinity or liver disease in siblings suggests the possibility of metabolic, familial, or genetic disease. Review of the prenatal and postnatal course may reveal intrauterine infection, occurrence of hypoglycemia or seizures, and exposure to toxins/drugs (i.e. total parenteral nutrition (TPN)). Careful physical examination may reveal features of typical disorders or syndromes. For the older child and adolescent, a history of exposure to drugs/toxins (e.g. acetaminophen), the presence of vascular insufficiency, and the presence of underlying disease (e.g. inflammatory bowel disease) provide helpful clues. The diagnostic evaluation of the infant with cholestasis is detailed in Chapter 8.
Chapter 26 - Cystic fibrosis liver disease
- from Section IV - Metabolic liver disease
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- By Meghana Sathe, Department of Pediatrics, University of Texas Southwestern and Children’s Medical Center, Dallas, TX, USA, Andrew P. Feranchak, Department of Pediatrics, UT Southwestern Medical Center and Children’s Medical Center, Dallas, TX, USA
- Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
-
- Book:
- Liver Disease in Children
- Published online:
- 05 March 2014
- Print publication:
- 20 February 2014, pp 419-434
-
- Chapter
- Export citation
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Summary
Introduction
Cystic fibrosis (CF) is a genetic disorder characterized by epithelial electrolyte transport abnormalities, elevated sweat Cl concentrations, pancreatic insufficiency, and chronic lung disease in most patients. It is the most common potentially fatal genetic disorder in the Caucasian population, affecting 1 in 2400–3500 live births [1,2]. It is an autosomal recessive disorder caused by a mutation in the gene CFTR encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane channel protein. The clinical significance of hepatobiliary disease in CF has not been well characterized primarily because of two factors: (1) pulmonary involvement leads to early mortality in a majority of patients, and (2) the clinical identification of CF-associated liver disease has been difficult because, although it is progressive, liver involvement is often asymptomatic until the appearance of end-stage complications. Recently, with improved pulmonary treatments, median life expectancy now exceeds 30 years and CF-associated hepatobiliary disease is recognized and characterized more comprehensively. Liver disease is now the third major cause of death in CF (after pulmonary disease and complications of lung transplant). In recent years, advances in our understanding of the function of CFTR in bile duct epithelia have provided a stronger scientific basis for the pathogenesis of the disease, leading to insights concerning potentially novel therapeutic approaches.
10 - Medical and Nutritional Management of Cholestasis in Infants and Children
- from SECTION II - CHOLESTATIC LIVER DISEASES
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- By Andrew P. Feranchak, M.D., Assistant Professor, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas; Department of Pediatric Gastroenterology and Hepatology, Children's Medical Center of Dallas, Dallas, Texas, Ronald J. Sokol, M.D., Professor and Vice Chair, Department of Pediatrics, Chief of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Colorado School of Medicine, Denver, Colorado; Chair, Department of Pediatric Gastroenterology and Hepatology, Children's Hospital, Denver, Colorado
- Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
-
- Book:
- Liver Disease in Children
- Published online:
- 18 December 2009
- Print publication:
- 07 May 2007, pp 190-231
-
- Chapter
- Export citation
-
Summary
When first encountering an infant or child with cholestatic liver disease, it is essential that diagnostic evaluation be conducted promptly in order to (i) recognize disorders amenable either to specific medical therapy (e.g., galactosemia, tyrosinemia, hypothyroidism, urinary tract infection) or to early surgical intervention (e.g., biliary atresia, choledochal cyst), (ii) institute treatment directed toward enhancing bile flow, and (iii) prevent and treat the varied medical, nutritional, and emotional consequences of chronic liver disease. Because many of the treatable causes require early diagnosis and prompt institution of therapy, the evaluation of the cholestatic infant should never be delayed. Although “physiologic cholestasis” (hypercholemia, or elevated bile acids) may be present in the infant, there is no state of “physiologic conjugated hyperbilirubinemia.” For the jaundiced infant, historical and clinical information such as color of the stools, birth weight, and presence of hepatomegaly may provide important clues as to the etiology of cholestasis. Consanguinity or liver disease in siblings suggests the possibility of metabolic, familial, or genetic disease. Review of the prenatal and postnatal course may reveal intrauterine infection, occurrence of hypoglycemia or seizures, and exposure to toxins/drugs (i.e., total parenteral nutrition [TPN]). Careful physical examination may reveal features of typical disorders or syndromes. For the older child and adolescent, a history of exposure to drugs/toxins (e.g., acetaminophen), the presence of vascular insufficiency, and the presence of underlying disease (e.g., inflammatory bowel disease) provide helpful clues. The diagnostic evaluation of the infant with cholestasis is detailed in Chapter 9.
24 - Cystic Fibrosis Liver Disease
- from SECTION IV - METABOLIC LIVER DISEASE
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- By Andrew P. Feranchak, M.D., Assistant Professor, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas; Department of Pediatric Gastroenterology and Hepatology, Children's Medical Center of Dallas, Dallas, Texas
- Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
-
- Book:
- Liver Disease in Children
- Published online:
- 18 December 2009
- Print publication:
- 07 May 2007, pp 572-594
-
- Chapter
- Export citation
-
Summary
Cystic fibrosis (CF) is a genetic disorder characterized by epithelial electrolyte transport abnormalities, elevated sweat Cl− concentrations, pancreatic insufficiency, and chronic lung disease in most patients. It is the most common potentially fatal genetic disorder in the Caucasian population, affecting 1 in 2400–3500 live births [1, 2]. It is an autosomal recessive disorder caused by a mutation in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane channel protein. The clinical significance of hepatobiliary disease in CF has not been well characterized primarily because of two factors: (1) pulmonary involvement leads to early mortality in a majority of patients, and (2) the clinical identification of CF-associated liver disease has been difficult because, although it is progressive, liver involvement is often asymptomatic until the appearance of end-stage complications. Recently, with improved pulmonary treatments, median life expectancy now exceeds 30 years [3] and CF-associated hepatobiliary disease is recognized and characterized more comprehensively. Liver disease is now the second major cause of death in CF [4]. In recent years, advances in our understanding of the function of CFTR in bile duct epithelia have provided a stronger scientific basis for the pathogenesis of the disease, leading to insights concerning potentially novel therapeutic approaches.
The earliest reports of CF, probably date to the Middle Ages with reports of malnourished and “sickly” children that tasted “salty” when kissed [5].