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1.
BMC Med Genet ; 20(1): 89, 2019 05 24.
Article in English | MEDLINE | ID: mdl-31126253

ABSTRACT

BACKGROUND: Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in Sri Lanka. CASE PRESENTATION: This report describes 10 unrelated cystic fibrosis cases with phenotypic features of cystic fibrosis and abnormal or intermediate sweat tests. The most common phenotypic features in this sample of symptomatic patients were persistent or recurrent lower respiratory tract infections, failure to thrive and Pseudo-Bartter syndrome. Altogether 7 cystic fibrosis causing mutations were identified in 10 patients. Except delta F508 which is the commonest mutation worldwide all the other mutations detected in Sri Lankan patients are rare mutations. 1161delC and V456A detected in our patients are South Asian mutations. The other mutations such as [C.1282C > G; C.2738A > G], C.53 + 1G > C, 2184insA and a deletion encompassing exons 4 to 11 have been reported previously from European patients with cystic fibrosis. CONCLUSION: These cases highlight the importance of considering the diagnosis of cystic fibrosis in children and young adults presenting with persistent respiratory tract infections associated with severe malnutrition and Pseudo-Bartter syndrome, especially in low income countries where newborn screening for cystic fibrosis is not available. The spectrum of CFTR mutations in Sri Lanka is heterogeneous and possibly linked to genetic flow from Indian subcontinent and Europe. The common mutations should be identified by sequencing the entire CFTR gene in adequate number of cystic fibrosis patients in order to design a mutation panel for common regional mutations.


Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Genetic Heterogeneity , Mutation , Child , Child, Preschool , Cystic Fibrosis/pathology , Female , Gene Frequency , Genotype , Humans , Infant , Male , Phenotype , Sri Lanka , Young Adult
2.
BMC Pediatr ; 19(1): 87, 2019 04 01.
Article in English | MEDLINE | ID: mdl-30935373

ABSTRACT

BACKGROUND: Series of biochemical and haematological changes occur during the course of dengue infection, which vary depending on the clinical disease. The patterns of change are not well documented and identifying these patterns in children with dengue infection would help to anticipate the progression to different clinical stages thus enabling effective management. METHODS: A prospective follow up study was conducted during the period of July 2013 - April 2014 at Professorial Pediatric unit, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. Children (5-12 years) admitted within the first 84 h of fever, with a clinical diagnosis of dengue infection were recruited. Children who became positive for dengue IgM were included in the final analysis. Blood was collected on admission for complete blood count, Alanine aminotransferase, Aspartate aminotransferase, albumin, cholesterol and corrected calcium. These tests were repeated at 12 hourly intervals during the hospital stay. RESULTS: Data of 130-subjects were analyzed (Dengue fever /Dengue hemorrhagic fever: 100/30). There was a significant difference in the pattern of white cell counts, platelets and haematocrit in the two clinical groups. Both transaminase rose initially in both dengue fever and dengue hemorrhagic fever and a steep rise were seen between 8th and 9th days in hemorrhagic fever. Both albumin and cholesterol decreased significantly at the time of entering into the critical phase. According to Receiver operating characteristic curve analysis, albumin level crossing 37.5g/L (sensitivity 86.7%, specificity 77.8%) and a 0.38 mmol/L reduction in cholesterol level (sensitivity 77.3%, specificity 71.9%) between day 3 and 4 were the best predictors of entering into critical phase. Calcium levels did not show any distinct pattern. CONCLUSIONS: There is a clear difference in the pattern of change of both hematological and biochemical parameters in dengue fever and dengue hemorrhagic fever. Reduction in albumin and cholesterol levels seen between the completion of day 3 and day 4 were highly valid predictors of entering into critical phase in dengue hemorrhagic fever.


Subject(s)
Cholesterol/blood , Dengue/blood , Serum Albumin , Severe Dengue/blood , Transaminases/blood , Blood Cell Count , Calcium/blood , Child , Child, Preschool , Disease Progression , Female , Follow-Up Studies , Humans , Liver Function Tests , Male , Prospective Studies , ROC Curve , Sensitivity and Specificity , Sri Lanka
3.
BMC Res Notes ; 10(1): 492, 2017 10 05.
Article in English | MEDLINE | ID: mdl-28982379

ABSTRACT

Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Author 6-given name should be Nalika and family name de Silva.

4.
BMC Res Notes ; 10(1): 454, 2017 Sep 06.
Article in English | MEDLINE | ID: mdl-28877755

ABSTRACT

BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment. Low uric acid concentrations in serum and low urinary fractional excretion of uric acid associated with high urinary excretion of xanthine and hypoxanthine were compatible with xanthine oxidase deficiency. CASE 2: An 8-month-old boy presented with intractable seizures, feeding difficulties, screaming episodes, microcephaly, facial dysmorphism and severe neuro developmental delay. Low uric acid level in serum, low fractional excretion of uric acid and radiological findings were consistent with possible molybdenum cofactor deficiency. Diagnosis was confirmed by elevated levels of xanthine, hypoxanthine and sulfocysteine levels in urine. CASE 3: A 3-year-10-month-old boy presented with global developmental delay, failure to thrive, dystonia and self-destructive behaviour. High uric acid levels in serum, increased fractional excretion of uric acid and absent hypoxanthine-guanine phosphoribosyltransferase enzyme level confirmed the diagnosis of Lesch-Nyhan syndrome. CASE 4: A 9-year-old boy was investigated for lower abdominal pain, gross haematuria and right renal calculus. Low uric acid level in serum and increased fractional excretion of uric acid pointed towards hereditary renal hypouricaemia which was confirmed by genetic studies. CONCLUSION: Abnormal uric acid level in blood and urine is a valuable tool in screening for clinical conditions related to derangement of the nucleic acid metabolic pathway.


Subject(s)
Mass Screening , Metabolism, Inborn Errors/blood , Metabolism, Inborn Errors/diagnosis , Uric Acid/blood , Child , Child, Preschool , Humans , Infant , Male , Metabolic Networks and Pathways , Purines/metabolism
5.
BMC Res Notes ; 10(1): 487, 2017 Sep 18.
Article in English | MEDLINE | ID: mdl-28923092

ABSTRACT

BACKGROUND: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. CASE PRESENTATION: A Sri Lankan girl presented with recurrent episodes of jaundice. She had conjugated hyperbilirubinaemia with diffuse, coarse brown pigments in the hepatocytes. Urine coproporphyrin examination suggested Dubin-Johnson syndrome. Genetic studies confirmed missense homozygous variant p.Trp709Arg in the ATP-binding cassette sub-family C member 2 gene ABCC2 that encodes the Multidrug resistance-associated protein 2 that causes Dubin-Johnson syndrome. The gene study of the mother revealed the same missense variant in ABCC2/MRP2 but with a heterozygous status, and in addition a homozygous missense variant p.Val444Ala in the ATP-binding cassette, sub-family B member 11 gene ABCB11 that encodes the bile salt export pump. CONCLUSION: Dubin-Johnson syndrome should be considered when the common causes for conjugated hyperbilirubinaemia have been excluded, and patient has an increased percentage of direct bilirubin relative to total bilirubin concentration. Its early diagnosis prevents repeated hospital admissions and investigations. Knowledge of a well known homozygous variant in ABCB11 gene could help in the management of pregnancy.


Subject(s)
Cholestasis, Intrahepatic/complications , Jaundice, Chronic Idiopathic/complications , Base Sequence , Biopsy , Child, Preschool , Cholestasis, Intrahepatic/genetics , Exons/genetics , Family , Female , Hepatocytes/pathology , Humans , Jaundice, Chronic Idiopathic/genetics , Liver/pathology , Multidrug Resistance-Associated Protein 2 , Pregnancy Complications/genetics , Sequence Analysis, DNA , Sri Lanka
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