Fatty acid oxidation in Kuwait: a case series and review

Fatty acid oxidation disorders [FAOD] are a group of inherited Inborn Error of Metabolism [IEM] in which specific enzyme defect in fatty acid metabolic pathway will lead to accumulation of fatty acids and decrease in cell energy metabolism. This paper will highlight the clues that can be obtained from history, clinical examination, and simple bedside tests characteristic for fatty acid oxidation disorders [fig 1] in order to raise the index of suspicion of these disorders among all pediatricians working in a society with high consanguineous marriage rate, such as Kuwait. The records of 15 patients diagnosed as FAOD were retrospectively reviewed. The final diagnosis was very long chain acyl-CoA dehydrogenase deficiency [VLCAD] in ten patients and long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHAD] in five patients. Eighty percent had a positive family history of either a previous sudden unexplained infant death or a similar diagnosis in a first-degree relative. History of consanguinity was positive in eleven patients [73%]. Diagnosis of FAOD can be difficult because patients tend to develop symptoms only during prolonged fasting and intercurrent acute illnesses. In our series seven patients presented with acute illness and four patients presented with respiratory distress, four had heart failure due to cardiomyopathy and another two presented with convulsions due to severe metabolic acidosis. Physical findings are usually non-specific, eight [53%] had hepatomegaly and four [27%] had marked hypotonia. Our group of 15 cases accumulated within 3 years is inordinately large and suggest that Kuwait provides a promising venue in which to study the biochemical and molecular genetics of FAOD

value of a positive nitrate test in routine urine analysis for the diagnosis of childhood UTI

Urinary tract infection [UTI] is one of the most common diseases in children. Its diagnosis depends mainly on urine culture. Urinalysis is used as a screening test to exclude UTI. A hospital based, prospective case-review study was carried out at the Pediatric Department, Al-Adan Hospital, State of Kuwait. The objectives of this study is: l.To determine the proportion of positive urine cultures identified in patient less than 12 years of age, admitted to hospital and was found to have a positive nitrite test in the routine urinanalysis. 2.Furthermore, to study the confound factors which increase the sensitivity of this test in order to reduce unnecessary culture of urinanalysis. A total of eighty patients admitted to Pediatrics wards at Al-Adan Hospital over a period of four months were found to have a positive nitrite test in routine urinanalysis. only 38 [47%] were significantly positive [pure bacterial growth of >= 100000 CFU/ml].Other studied confound factors such as fever, urinary symptoms, rigors, family history and past history of UTI, history of nocturnal enuresis or constipation were only significant if taken in combination [of those with positive urine cultures 97% had more than one factor]. Urinary leukocyte count was significantly elevated [> 10/hpf] in 90% of the patients with a positive urine cultures. Our data indicates that ordering urine culture in patients with a positive nitrite in urinanalysis should be restricted only to those who also have elevated urinary leukocyte esterase and those who have one or more risk factor for UTI