Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four infants with conjugated hyperbilirubinemia who were brought for treatment primarily because of a hemorrhage are reported. Underlying disorders included extrahepatic biliary atresia, choledochal cysts, and alpha 1-antitrypsin deficiency. Prodromal signs of disturbed coagulation and diminished bile excretion were not recognized. The increased bleeding tendency was probably caused by vitamin K deficiency, resulting from a combination of cholestasis-induced fat malabsorption, absence of vitamin K supplementation after birth, and low vitamin K intake as a result of breast feeding.
 ...
PMID:Bleeding as presenting symptom of cholestasis. 841 Mar 91

The fatty acid compositions of serum phospholipids and cholesterol esters and direct bilirubinemia were determined in 11 children with cholestasis due to extrahepatic biliary atresia. The levels of the different fatty acids in these lipid classes were compared with those of 22 appropriate controls and correlations with conjugated bilirubinemia were calculated. Significant differences were found in the levels of several fatty acids in these lipid classes, some of which were related to conjugated bilirubinemia. Relationships between fatty acids in phospholipids and cholesterol esters which exist in the control group were either absent or different in the patient group. The results found are compatible with the concept that malabsorption, overflow in blood of phospholipids, which are excreted in bile in healthy individuals, and liver disease per se contribute to the deviating fatty acid compositions. They suggest that administration in the diet may be required of preformed long chain polyunsaturated fatty acids in an easily absorbable form.
 ...
PMID:Several mechanisms contribute to the abnormal fatty acid composition of serum phospholipids and cholesterol esters in cholestatic children with extrahepatic biliary atresia. 908 98

The somatosensory evoked potentials from the lower extremities were measured postoperatively in 15 patients with biliary atresia to investigate whether they were free of neurologic dysfunction. Because long-standing cholestasis causes progressive neuropathy due to malabsorption of vitamin E, the serum vitamin E, D, and A levels were also examined to evaluate the fat-soluble vitamin status. The cerebral evoked potentials to posterior tibial nerve stimulation were recorded in all 15 patients as well as in 45 controls, but spinal evoked potentials examined at the level of the cauda equina could not be recorded in five patients more than 8 years of age with long-standing icterus. The remaining 10 patients exhibited spinal evoked potentials as observed in the controls, but the mean neural conduction velocity at the cauda equina was significantly lower than that of the 45 controls (42.0 +/- 5.1 m/s vs 52.3 +/- 6.8 m/s, P = .0002). The serum vitamin E, D, and A levels were within the normal range in 13, 9, and 1 of 15 patients, respectively. These results suggest that the patients with long-term follow-up are still at risk of developing neural disturbances even with normal serum vitamin E status.
 ...
PMID:Evoked potential abnormalities in postoperative patients with biliary atresia. 916 10

Long-chain polyunsaturated fatty acids are important for the growth and early development of the central nervous system. Cholestatic infants suffer from fat malabsorption and disturbed lipid metabolism and therefore may be at risk of developing polyunsaturated fatty acid depletion. The aims of this study were to determine essential fatty acid status in cholestatic infants and to study the relationship to disease severity, degree of undernutrition, antioxidant status and mode of feeding. Twenty-four-hour dietary records were obtained in 34 cholestatic infants, and measurements were taken of skin fold thicknesses, bilirubin levels, activities of serum alanine aminotransferase, alkaline phosphatase, gamma-glutamyl transpeptidase, prothrombin time, serum concentrations of albumin, bile acids, total lipids, phospholipids, cholesterol, vitamins A and E, the fatty acid composition of plasma phospholipids and plasma lipid peroxides expressed as thiobarbiturate reactive substance (TBARS). Plasma phospholipid fatty acids and TBARS were also determined in 12 age-matched healthy control infants. The cholestatic patients had very low percentage values of phospholipid essential fatty acids, particularly linoleic acid ( 18:2omega-6, median 14.74% vs 20.76% in controls, p < 0.001) and its major metabolite arachidonic acid (20:4omega-6, 6.80 vs 7.87%, p=0.04). The patients' essential fatty acid depletion was reflected by increased levels of the non-essential fatty acids, Mead acid (20:3omega-9, 0.74 vs 0.21%, p < 0.001) and palmitoleic acid (16:1omega-7, 2.20 vs 0.43%, p < 0.001). Polyunsaturated fatty acid profiles did not differ between infants with biliary atresia (n=13) and those with intrahepatic cholestasis (n=21), or between 17 infants with severe malnutrition (all skin folds < 10th percentile) and mild malnutrition (at least two skin folds > 10th percentile). TBARS were significantly higher in cholestatic patients than in controls (2.74 vs 0.85 nmol ml(-1), p < 0.001) and correlated with direct (r=0.41, p=0.02) and total bilirubin. The daily dietary intake of linoleic acid (per 100 kcal) correlated with plasma phospholipid linoleic acid (r=0.38,p=0.037) and total omega-6 fatty acids (r=0.38,p=0.036). Breastfed cholestatic infants (n=6) had higher values of the omega-3 long-chain polyunsaturated fatty acids docosapentanoic acid (22:5omega-3, 0.47 vs 0.28%, p=0.0006) and docosahexanoic acid (22:6omega-3, 2.39 vs 1.73%, p=0.01) than formula-fed infants, while disease severity was similar in the two groups. In conclusion, cholestatic infants are at high risk of essential fatty acid depletion, which appears to be related to fat malabsorption, hepatic essential fatty metabolism, enhanced lipid peroxidation and dietary intake.
 ...
PMID:Essential fatty acid metabolism in infants with cholestasis. 956 34

Any infant who is jaundiced beyond two to three weeks of life should be evaluated for neonatal cholestasis. Neonatal cholestasis is defined as accumulation of bile substances in blood due to impaired excretion. These infants should always have fractionated serum bilirubin levels checked to differentiate the conjugated hyperbilirubinemia of cholestasis from unconjugated hyperbilirubinemia that is usually benign and spontaneously resolves. Conjugated hyperbilirubinemia, pale stools and dark urine are the cardinal features of neonatal cholestasis. The differential diagnosis of cholestasis is extensive and a systematic approach is helpful to quickly establish the diagnosis. Biliary atresia is a common cause of neonatal cholestasis and affected infants need surgery before 60 days of life for better prognosis. Premature infants have multifactorial cholestasis and need a modified approach to the evaluation of cholestasis. Management of cholestasis is mostly supportive, consisting of medical management of complications of chronic cholestasis like pruritus and nutritional support for malabsorption and vitamin deficiency.
 ...
PMID:Neonatal cholestasis. 1568 66

Vitamin K deficiency bleeding (VKDB) is a rare and potentially life-threatening bleeding disorder of early infancy. Vitamin K stores are low at birth; thereafter breast-fed infants are at risk because of low concentrations in human milk. Classical VKDB occurs in the first week of life, is related to delayed or inadequate feeding and is readily prevented by small doses of vitamin K at birth. Late VKDB peaks at 3-8 weeks, typically presents with intracranial haemorrhage often due to undiagnosed cholestasis with resultant malabsorption of vitamin K. Diagnosis can be difficult but PIVKA-II measurements can provide confirmation even several days post-treatment. Without vitamin K prophylaxis, the incidence of late VKDB in Europe is 4-7 cases per 10(5) births; it is higher in SE Asia where in rural, low-income areas some 0.1% of affected infants may suffer intracranial bleeding. Late VKDB is largely preventable with parenteral vitamin K providing the best protection. The efficacy of oral prophylaxis is related to the dose and frequency of administration. Most multi-dose oral regimens provide protection for all except a small reservoir of infants with undetected hepatobiliary disease. Targeted surveillance of high-risk groups (e.g. biliary atresia) offers a novel approach to assess efficacy of prophylaxis.
 ...
PMID:Vitamin K deficiency bleeding (VKDB) in early infancy. 1880 3

Growth retardation is one of the most prominent consequences of childhood cholestatic liver diseases. The pathogenesis of malnutrition is multifactorial and includes reduced calorie intake, fat malabsorption, abnormal protein metabolism, and increased energy expenditure. Poor growth is a typical feature of biliary atresia, cystic fibrosis, progressive familial intrahepatic cholestasis and Alagille syndrome. In some of these features it is not only directly related to impaired nutrient absorption. Liver transplantation is required if liver disease progresses to liver failure - improved nutritional status is achieved within weeks after surgery. Still, patients with Alagille syndrome present with only slight catch-up growth after transplantation, while patients with PFIC and biliary atresia grow significantly.<br />
 ...
PMID:Factors affecting catch-up growth after liver transplantation in children with cholestatic liver diseases. 2030 23

Extrahepatic biliary atresia (EHBA) is a rare disease characterized by progressive and obliterative cholangiopathy in infants and is one of the major causes of secondary vitamin K deficiency bleeding (VKDB) due to cholestasis-induced fat malabsorption. Breast feeding increases the tendency of bleeding in EHBA patients because breast milk contains low amounts of vitamin K. A 2-month-old female infant unexpectedly died, with symptoms of vomiting and jaundice prior to death. She had been born by uncomplicated vaginal delivery and exhibited normal growth and development with breastfeeding. There was no history of trauma. She received vitamin K prophylaxis orally. In an emergency hospital, a CT scan showed a right intracranial hematoma and mass effect with midline shift to the left. In the postmortem examination, severe atresia was observed in the whole extrahepatic bile duct. Histologically, cholestasis, periductal fibrosis, and distorted bile ductules were noted. The gallbladder was not identified. A subdural hematoma and cerebellar tonsillar herniation were found; however, no traumatic injury in any part of the body was observed. Together, these findings suggest that the subdural hemorrhage was caused by secondary vitamin K deficiency resulting from a combination of cholestasis-induced fat malabsorption and breastfeeding. Subdural hemorrhage by secondary VKDB sometimes occurs even when vitamin K prophylaxis is continued. This case demonstrated that intrinsic factors, such as secondary VKDB (e.g., EHBA, neonatal hepatitis, chronic diarrhea), should also be considered in infant autopsy cases presenting with subdural hemorrhage.
 ...
PMID:Subdural hemorrhage: A unique case involving secondary vitamin K deficiency bleeding due to biliary atresia. 2260 80

Extrahepatic biliary atresia classically presents in the neonatal period with jaundice and pale stools. The lack of bile pigment in stool can be unrecognised, delaying diagnosis and surgical treatment. Vitamin K is given at birth to reduce the risk of haemorrhagic disease of the newborn, but this may be inadequate to prevent the development of coagulopathy secondary to fat soluble vitamin malabsorption. We present the case of a 3 month old infant who presented with an intracerebral haemorrhage and coagulopathy thought to be secondary to fat malabsorption resulting from delayed diagnosis of extrahepatic biliary atresia. This was despite the perinatal administration of intramuscular vitamin K. His parents did not recognise the stool pallor as being abnormal. This case illustrates the importance of educating parents on the significance of pale stools, and also the risk of coagulopathy in extrahepatic biliary atresia despite perinatal intramuscular vitamin K.
 ...
PMID:Yellow is pale: the complications and challenges of late diagnosis of extrahepatic biliary atresia. 2303 3

Biliary atresia (BA) is one of the major hepatobiliary abnormalities in infants and one of the causes of hepatic osteodystrophy. Bone disease may be caused by the malabsorption of calcium and magnesium by vitamin D in hepatobiliary diseases in which bile flow into the intestines is deficient or absent. Bone fracture before Kasai hepatic portoenterostomy or within one month after the procedure in an infant with BA is very rare. We herein report two infants: one infant with BA who initially presented with a bone fracture before Kasai hepatic portoenterostomy, and the other at 4 wk after Kasai hepatic portoenterostomy, and also provide a review of the literature. Moreover, we conclude that clinicians should consider BA in infants with bone fracture during early infancy.
 ...
PMID:Hepatic osteodystrophy complicated with bone fracture in early infants with biliary atresia. 2329 13


<< Previous 1 2 3 4 Next >>