ABSTRACT
Background: Fluorosis is an endemic condition with prevalence in 19 states and union territories in India. It is an urgent task to survey the fluorosis-related problems in these regions. Objective: To study the clinical manifestations of water-born fluorosis among schoolchildren in Kaiwara village of India. Methods: A cross-sectional study was conducted in all schoolchildren between 1st and 7th standard studying in Kaiwara village, Karnataka State, India. Parameters studied included fluoride ingestion through drinking water, fluoride excretion through urine, clinical features of fluorosis. These included dental staining, genu valgum, goiter, and conjunctival xerosis. Fluoride in water and urine samples was estimated using an ion meter. Results: Of the 416 schoolchildren studied, 24.0% children had dental fluorosis, 11.4% children had genu valgum, 20.9% had goiter, and 10.3% had xerosis of the conjunctiva. One hundred children passed high levels of fluoride in urine, while 90% of water samples consumed by the local residents contained high levels of fluoride. Conclusion: It was proved that water-born fluorosis is endemic in Kaiwara village. The endemic prevalence of the syndrome of fluorosis among school children was characterized by dental mottling, genu valgum, endemic goiter, and xerosis of the conjunctiva.
ABSTRACT
Background: Crigler Najjar syndrome (CNS) is an extremely rare disorder of bilirubin metabolism that follows an autosomal recessive pattern of inheritance. CNS is elicited by a lack or deficiency of the enzyme uridine diphosphate glucuronyl transferase (UDGT). Two distinct forms have been described type 1 and type 2. Type 1 CNS is associated with neonatal unconjugated hyperbilirubinemia and kernicterus, which results in very high levels of unconjugated hyperbilirubinemia (up to 50 mg/dL) at birth. Type 2 CNS presents with serum bilirubin levels up to 20 mg/dL and markedly depressed activity of hepatic UDGT are characteristic of type 2 CNS. Objective: To rule out other causes for unconjugated hyperbilirubinemia, and arrive at a definitive diagnosis of Crigler Najjar syndrome type 2. Methods: Clinical examination of the baby and laboratory investigations like hemoglobin, complete blood count, thyroid profile, liver function tests and ultrasound were carried out. Results: Except for unconjugated hyperbilirubinemia, all other reports were within the normal range. Conclusion: Laboratory investigations and the response of the baby to phototherapy and phenobarbitone with decrease in the serum unconjugated bilirubin levels lead to a diagnosis of Crigler Najjar syndrome type 2. Hepatic glucuronyl transferase activity in a liver specimen, obtained by a closed biopsy and in vitro expression of mutant DNA from patient fibroblast, would have been helpful for definitive diagnosis.