Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0008370 (cholestasis)
 9,378 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts. Subsequent magnetic resonance imaging (MRI) of the head revealed a hypoplastic pituitary gland with an ectopic posterior lobe, and the patient was diagnosed with congenital CPHD based on decreased secretion of cortisol and GH by the pituitary anterior lobe load test. D-Bil levels promptly improved after hydrocortisone (HDC) replacement. We subsequently began replacement with levothyroxine (L-T4) and GH, and liver histology showed normal interlobular bile ducts at 8 mo old. This is the first case report of proven histological improvement after hormone replacement therapy. This suggested that pituitary-mediated hormones, especially cortisol, might be involved in the development of the bile ducts.
 ...
PMID:A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. 2902 74

The bronze baby syndrome is an infrequent dyschromia resulting from phototherapy in newborn babies with neonatal jaundice. Even though the common phenotype has been described in patients with direct neonatal hyperbilirubinemia secondary to cholestasis, several cases of patients with indirect neonatal hyperbilirubinemia who have managed to reverse it have been reported, as well as patients with isolated hyperbilirubinemia.Currently, the physiopathology of this condition is still a subject of controversy and, therefore, there is a lack of clear conducts for its correct diagnosis and treatment.Generally, this syndrome has been considered as a mild condition that is resolved with the suspension of phototherapy. Its duration is usually not greater than the neonatal period, and it has no long-term sequelae. However, its occurrence is considered an absolute contraindication for the continuation of phototherapy. In case of persistence, the recommendation is to decrease bilirrubin levels and proceed with exchange transfusion; this procedure, however, represents risks for the newborn, so our recommendation is to suspend phototherapy and reinitiate it if the direct bilirrubin value decreases, andcholestasis compromise has been discarded. Serial evaluations of acute encephalopathy caused by bilirrubin are absolutely recommended.The objective of this paper was to describe the case of a newborn with ABO incompatibility who developed the bronze baby syndrome. This patient responded satisfactorily to the suspension and resumption of phototherapy without exchange transfusion.
 ...
PMID:[Bronze baby syndrome, an unpredictable complication of phototherapy: A case report]. 2980 26

Neonatal jaundice is considered one of the most common reasons for admission to the pediatric medical ward. We report a case of a 1-month-old infant who presented with jaundice but no fever or any other signs of systemic illnesses. Laboratory test results revealed high direct hyperbilirubinemia, and urine culture showed a urinary tract infection with Enterobacter cloacae as the causative agent. He was admitted to the pediatric medical ward where he was treated with a course of antibiotics for 14 days, and cholestasis resolved completely following a course of antibiotics. We conclude that direct hyperbilirubinemia can be related to urinary tract infection in neonates. It is unusual for urinary tract infection to present clinically and biochemically as cholestatic jaundice.
 ...
PMID:Unusual Case of an Infant with Urinary Tract Infection Presenting as Cholestatic Jaundice. 3047 95


<< Previous 1 2 3 4