Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome.

A 7-year-old girl had been followed up for persistent conjugated hyperbilirubinemia since birth. Alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transpeptidase activity was within the normal range, and liver protein synthesis had always been normal. Infectious etiology of jaundice, autoimmune diseases, drug-induced liver injury, hemolytic anemia, α-1 anti-trypsin deficiency, Wilson disease and Gilbert syndrome were ruled out. At the age of 8 years the patient underwent radionuclide dynamic cholescintigraphy, indicating poor accumulation of the radiotracer in the liver on one hand, and severe retention of the radiopharmaceutical in the blood pool (including the heart) on the other hand. Rotor syndrome was suspected and finally confirmed on molecular analysis. This case represents the first cholescintigraphy report in a pediatric patient with genetically proven Rotor syndrome.

Bilirubin and biliverdin protect rodents against diabetic nephropathy by downregulating NAD(P)H oxidase.

We recently found a markedly lower prevalence of vascular complications, including kidney disease, in diabetic patients with Gilbert syndrome, a congenital form of hyperbilirubinemia, suggesting a beneficial effect of bilirubin (BIL) on diabetic nephropathy. To directly examine this, we determined whether hereditary hyperbilirubinemic Gunn j/j rats and biliverdin (BVD)-treated diabetic db/db mice were resistant to the development of renal disease. Both rodent models had less albuminuria and complete protection against the progression of mesangial expansion accompanied by normalization of transforming growth factor-ß1 and fibronectin expression. Simultaneously, there was normalization of urinary and renal oxidative stress markers, and the expression of nicotinamide adenine dinucleotide phosphate (NAD(P)H) oxidase subunits in the kidney. In cultured vascular endothelial and mesangial cells, BIL and BVD significantly inhibited NADPH-dependent superoxide production, and both high glucose- and angiotensin II-induced production of reactive oxygen species. Collectively, our findings suggest that BIL and BVD may protect against diabetic nephropathy and may lead to novel antioxidant therapies for diabetic nephropathy.

Causes of prolonged jaundice in infancy: 3-year experience in a tertiary paediatric centre.

UNLABELLED: Although prolonged jaundice (PJ) commonly occurs in infancy, there is not yet agreement as to the appropriate extent of investigations, particularly in otherwise well children. Significant pathologies may present with PJ in this age group and need to be considered. AIM: The aim of this retrospective study was to ascertain the causes of PJ in infants referred to a single tertiary paediatric centre. METHODS: Infants referred with PJ over a 3-year period were identified. Clinical documentation, electronic notes and results of investigations performed prior to and after referral were reviewed. RESULTS: One hundred and sixty-seven infants with PJ were seen. Fifty-eight percent were over 28 days of age. Four patients had conjugated hyperbilirubinaemia. Eighteen percent of patients were found to have a specific medical diagnosis causing or contributing to PJ, almost half of whom had normal clinical examination. The single most common pathological cause for PJ was hypothyroidism found in six patients. CONCLUSIONS: This study demonstrates that normal clinical examination and exclusion of conjugated hyperbilirubinaemia are insufficient to exclude pathological causes of PJ. Overall, these children were referred late. Guidelines, in conjunction with education initiatives, are required to optimise the management of prolonged jaundice in infancy.

Hyperbilirubinemia of fasting. A case of postoperative jaundice.

A patient had substantial jaundice following an uncomplicated appendectomy. After recovery, the hyperbilirubinemia recurred following a 24-hour fast. An analysis to determine the effect of fasting on the bilirubin level in hospitalized patients showed an apparent elevation in the serum unconjugated bilirubin level in the fasting state.

Haem biosynthesis in the unconjugated hyperbilirubinaemias: observations in the Gunn rat model.

Disturbances of the enzymes of haem biosynthesis have been reported in patients with unconjugated hyperbilirubinaemia. We have examined the excretion of haem precursors in the Gunn rat which suffers from severe unconjugated hyperbilirubinaemia. In urine, levels of aminolaevulinic acid and total porphyrin were significantly reduced when compared to controls. In feces both coproporphyrin and protoporphyrin levels were reduced in Gunn rats, the former being more affected. Blood porphyrin levels in control and Gunn rats were similar.

Familial hyperbilirubinemia in Friedreich's ataxia.

The combined metabolic stresses of fasting and the intravenous injection of 50 mg nicotinic acid in Friedreich's ataxia resulted in the delineation of two sub-groups of responses. High bilirubin ataxics maintained abnormally elevated levels of bilirubin, while normal bilirubin ataxics behaved like the normal control group. It is postulated that this finding infers the possible linkage of the gene for Friedreich's ataxia and that for Gilbert's disease.

Extreme hyperbilirubinemia in a patient with hereditary spherocytosis, Gilbert's syndrome, and obstructive jaundice.

Hyperbilirubinemia may be of several etiologies in the individual patient. An 18-year-old man presented with extreme hyperbilirubinemia (direct bilirubin 23.0 mg/dl, total bilirubin 60.0 mg/dl), hepatosplenomegaly, and anemia. Hematologic studies prelaparotomy documented the presence of hereditary spherocytosis. Intraoperative liver biopsy revealed moderately reduced levels of glucuronyl transferase activity (Gilbert's syndrome). Common bile duct obstruction secondary to choledocholithiasis was found, and a cholecystectomy and splenectomy were performed. This case stresses the potential confusion among several diseases which may present with hyperbilirubinemia.

[A case of possible lovastatin-induced pancreatitis in concomitant Gilbert syndrome]. / Ein Fall möglicher Lovastatin-induzierter Pankreatitis bei gleichzeitigem Gilbert-Syndrom.

A patient is described in whom treatment with the cholesterol-lowering agent Lovastatin (Mevacor MSD) led to a slight to moderate elevation of amylase and bilirubin with the occurrence of symptoms attributable to mild pancreatitis. These symptoms were sufficiently severe to require discontinuation of the drug. The concomitant existence of Gilbert's syndrome in this patient may have been causally related to the non-tolerance of this valuable drug. Although a penetrating ulcer cannot be ruled out in the differential diagnosis, the overall evidence favours the diagnosis of Lovastatin pancreatitis, a so far unpublished complication.

Gilbert's syndrome in patients with gallbladder stones.

Patients with Gilbert's syndrome suffer from an abnormality which makes them jaundiced from time to time. A number also develop gallstones and come to cholecystectomy. If this condition has not been recognized these patients may subsequently run the risk of unnecessary operations on their bile ducts from the mistaken assumption that the intermittent episodes of jaundice which are a feature of the syndrome are due to a stone which has been left behind. Such a case history is reported here.In an attempt to determine how frequently these conditions coexist a prospective study was carried out on patients about to undergo cholecystectomy for stones in the gallbladder. Gilbert's disease was found to be present in 2 of 67 males (3.2% +/- 0.8%) but not in 184 females. Hence it seems that about 1 in every 30 males subjected to cholecystectomy may be expected to have this abnormality.It is suggested that this places an obligation on the clinician to have liver function tests done on at least two occasions preoperatively in male patients with cholelithiasis in an attempt to detect this abnormality and avoid this surgical pitfall.

A child with rotor syndrome and Capillaria philippinensis: case report and review of literature.

This paper reported Capillaria philippinensis in an Egyptian child based on clinical and laboratory diagnosis. The patient was successfullly treated with albendazole.