RESUMEN
Objective: To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan
Methods: This is a three years retrospective study from January 2013 to December 2015 conducted at The Aga Khan University Hospital Karachi Pakistan, enrolling admitted patient from birth to 15 years of either gender, diagnosed with CF on the basis of clinical features and positive sweat chloride test. Different clinical presentations were noted including initial presentations. Sweat chloride values more than 60mmol/L were labeled as positive and consistent with diagnosis of CF. Available Delta F-508 mutation analyses were noted. Relevant laboratory and radiological investigations including sputum culture and HRCT chest findings were documented. Results were analyzed using SPSS version 20
Results: Total 43 children were selected according to the inclusion criteria. Chronic cough [69.76%] was the most common initial clinical presentation. Mean age at onset of symptoms was 14.41 +/- 26.18 months and mean age at diagnosis was 47.20 +/- 45.80 months Respiratory features were most common in our cohort including chronic productive cough [90.71%], recurrent bronchopneumonia [72.09%] and asthma like presentation [44.19%] with wheezing and cough. 86% patients presented with failure to thrive. Gastroenterological features including steatorrhea were seen in 55.81% patients and 44.19% patients had abdominal distension. Mean sweat chloride value in our population was 82.70 +/- 22.74. Gene analysis for Delta F-508 was identified in 12 [27.90%] patients. Bronchiectatic pulmonary changes on HRCT were seen in 18 patients [41.86%]. Pseudomonas grew in 12 patients [27.90%] in sputum cultures at the time of diagnosis
Conclusion: Respiratory presentations predominate in CF children followed by gastrointestinal features. Nearly half of our patient had bronchiectatic changes on CT scan chest and more than quarter had pseudomonas colonization in the airways at the time of diagnosis. Delta F-508 mutation was found to be uncommon in our study population. There is significant delay in diagnosing patients with CF
RESUMEN
Objective: To determine clinical features and relevant laboratory investigations of patient with celiac disease [CD] and comparing classical celiac disease [CCD] with Non-diarrheal celiac disease [NDCD]
Methods: This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease [with Chronic Diarrhea] and non-diarrheal celiac disease [Atypical celiac] and their clinical features and relevant laboratory investigations were documented
Results: Total 66 patients were selected with celiac disease according to inclusion criteria, 39 [59.09%] patients were labeled as CCD and 27 [40.91%] patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies [TTG] were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain [62.9%]. Frequency of failure to thrive is significantly high in CCD [82.05%] but patients merely with short stature were more common in NDCD [33.3%]. Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group [p= 0.03]
Conclusion: NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology and raised antibodies titer is hallmark of CCD. Vitamin D deficiency is almost equally present in both groups
RESUMEN
Objective: To determine different clinical presentations and disease location demarcated by upper and lower gastrointestinal endoscopy and relevant histopathology in children diagnosed with inflammatory bowel disease [IBD]
Methods: This is 5 years [2010 to 2015] retrospective study conducted at the Aga Khan University Hospital enrolling 65 admitted children between 6 months to 15 years from either gender, diagnosed with IBD on clinical presentation, endoscopy and biopsy. Different clinical presentations at the time of diagnosis were noted in different categories of the disease. All patients underwent upper and lower [up to the terminal ileum] endoscopy with multiple punch biopsies and histologic assessment of mucosal specimens. All endoscopies were done by paediatric gastroenterologists at endoscopy suite of the hospital and all specimens were reported by the pathology department. ESPGHAN revised criteria for the diagnosis of inflammatory bowel disease in children and an adolescent was used to standardize our diagnosis. Extent of disease on endoscopy and relevant histopathology of the biopsy samples were noted at the time of diagnosis. Data was summarized using mean, standard deviation, numbers and percentages for different variables
Results: Total 56 children were enrolled according to inclusion criteria. There were 34 children [61.53%]diagnosed with ulcerative colitis [UC] 10 patients [16.92%] had Crohn's Disease [CD] and 11 [21.53%] patients were labeled as Indeterminate colitis [1C]. Mean age at onset of symptoms was10.03+/-2.44 and mean age at diagnosis was11.10+/-2.36. Abdominal pain [80%] and chronic diarrhea [70%] were common symptoms in CD whereas bloody diarrhea [79.41%] and rectal bleeding [64.70%] were common presentation in UC. Patients diagnosed with indeterminate colitis [IC] had similar clinical features as in UC patients. Only 7% patients had some extra-intestinal features in the form of joint pain and /or uveitis. Aspartate aminotransferase level [95.18 +/-12.89] was relatively high in patients with CD in comparison with other categories of IBD. Endoscopic findings and relevant histopathology of biopsy samples in UC showed 65% patient had pan-colitis and 13% with disease restricted to rectum only whereas in CD 70% patient had| disease in ileo-colon and only 10% had involvement of ileum at the time diagnosis
Conclusion: Patients with UC dominated in our cohort. The most common clinical presentation in UCJ was bloody diarrhea and rectal bleeding and patients with CD had abdominal pain and chronic diarrhea i as predominant clinical features. Extraintestinal features were uncommon in our cohort. In endoscopicl findings, pan-colitis was the most frequent finding in UC and ileo-colon was common location in CD. 1C and UC shared common clinical features and disease location on endoscopy