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OBJECTIVES: We are reporting a rare case series of 2 siblings and their mother with diabetes having a CFAP126 gene mutation. CASE PRESENTATION: Two female siblings, presented with incidental hyperglycemia at the ages of 16 and 13. They had a strong family history of diabetes on the maternal side. The systemic examination was unremarkable. Sibling 1 had HbA1C of 12.3 % with insulin and C-peptide levels of 6.6 IU/L and 1.8 ng/mL, respectively. Sibling 2 had an HbA1C of 12.6 %, an insulin level of 7.3 IU/L, and a C-peptide level of 2.02 ng/mL. Anti-GAD-65 and IA2 antibodies were negative. Mother also shared similar clinical processes and exhibited comparable biochemical changes related to glucose metabolism with elevated HbA1C levels and negative autoimmune markers (anti-GAD65 and IA2 antibodies). Whole exome sequencing (WES) turned out to be negative for MODY variants but revealed a rare heterozygous mutation in the CFAP126 gene (c.310A>T p. (Lys104*) in this family including both siblings and mother. The pathogenicity prediction tool MutationTaster® classified the mutation as disease causing. Oral glibenclamide remarkably reduced insulin requirements and improved HbA1C levels. CONCLUSIONS: This rare genetic mutation is likely associated with diabetes and possibly a novel marker for a yet to be identified type of diabetes, that is responsive to oral sulfonylureas. The influence of this gene on insulin secretion needs to be confirmed through future research.

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The glucokinase regulatory protein (GCKR) regulates glycogen metabolism and insulin secretion, and the GCKR rs1260326 is a putative single nucleotide polymorphism (SNP) associated with metabolic disorders including nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). This study was conducted to investigate the genetic association of the GCKR rs1260326 in NAFLD and T2DM in our population. NAFLD (n = 103), T2DM (n = 100), and control (n = 100) samples were collected and genotyped for GCKR rs1260326 by tetra-arm PCR. The genetic variant GCKR rs1260326 was significantly linked with NAFLD and T2DM, while the GCKR rs1260326 was significantly associated with the progression of obesity only in NAFLD subjects. The frequency of the C allele (mutant) was higher in both NAFLD (f = 0.69) and T2DM (f = 0.66) subjects as compared to healthy controls of NAFLD (0.52) and T2DM (f = 0.32). The frequency of the C allele was also positively linked with the progression of obesity in both diseases. The frequency of the C allele was 0.66, 0.67, and 0.74 in NAFLD normal weight, overweight, and obese subjects, respectively, while the frequency of the C allele was 0.60, 0.60, and 0.74 in T2DM in normal weight, overweight, and obese subjects, respectively. Homozygous mutant (CC) was 53% in both NAFLD and T2DM subjects, while heterozygous mutant (CT) was 15.53% in NAFLD and 22% in T2DM subjects. Wild-type allele (TT) was 31.06% in NAFLD and 25% in T2DM subjects. In conclusion, the GCKR rs1260326 is a highly prevalent SNP in NAFLD and T2DM subjects, which possibly contributed to obesity, insulin resistance, and metabolic disorders in our population.

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BACKGROUND: Dengue Fever is caused by arthropod born viruses. According to World Health Organization approximately 50-100 million infections of dengue fever occur yearly. Objective of this study was to determine the frequency of splenomegaly in dengue fever in children. METHODS: This cross sectional study was conducted at the Department of Paediatrics, Allied Hospital, Faisalabad, during a period from June 2012 to May 2013 by including 93 Children, aged 4-14 years presenting with fever of less than 14 days with thrombocytopenia and positive IM or IgM and IgG dengue antibodies by ELISA. Patients were thoroughly evaluated by detailed history and clinical examination. Ultrasonography of the patients was performed to confirm the splenomegaly. The data was analysed to determine the frequency and percentage of disease. RESULTS: Out of 93 children, 51 (54.8%) were male and 42 (45.2%) were female. The most common clinical presentation was noted is chills and rigors in 80 (86.02%). Unusual clinical features were encephalopathy in 3T (39.78%) followed by bleeding manifestations and upper respiratory tract infection (upper RTI). Splenomegaly was seen in 45 (48.4%) children. CONCLUSION: Dengue fever is increasingly presenting with atypical presentation like splenomegaly, encephalopathy, bleeding manifestations and upper RTI.

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BACKGROUND: Coeliac disease used to be considered as a disease of European and Western population but now it has emerged as a global problem. Objective of this study was to evaluate the frequency and mode of presentation of coeliac disease in children presenting with failure to thrive. METHODS: This cross-sectional descriptive study was conducted at Paediatrics Department of Madina Teaching Hospital in collaboration with Histopathology Department of University Medical and Dental College, Faisalabad over a period from April 2010 to March 2011. A total of 60 children, aged 4-6 years presenting as failure to thrive according to their height and weight, were included. Relevant investigations were done along with radiological assessment of bone age. The jejunal biopsy was taken in all the patients. Children who were suffering from primary or secondary malnutrition due to other chronic illnesses and malabsorptive syndromes were excluded from the study. The data was analysed using SPSS-17. Chi-square test was used and p < 0.05 was considered significant. RESULTS: Total 60 children, 4-16 years of age were included in the study. Twenty-four (40%) children were diagnosed as coeliac disease by jejunal biopsy showing Marsh Grade-3. Male/female ration was 1.5:1. The most frequent symptom among these coeliac patients was abdominal distension (75%, p = 0.041), followed by pallor. (71%, p = 0.048). Anaemia (Hb < 12 gm/dl) was found in all 24 patients. CONCLUSION: Coeliac disease is increasingly being recognised as presenting with atypical presentation like short stature, failure to thrive, unexplained anaemia, rickets, abdominal distension and abdominal pain.

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