Clinical and laboratory profile of children with cystic fibrosis: experience of a tertiary care center in Pakistan

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

Failure to thrive, can this be Bartter's syndrome?

A case series of four children, of different age groups, having complaints of polyuria and failure to thrive. These cases include two infants, a toddler and a child and investigations revealed that they had hyponatremia, hypokalemia, hyperchloremia and metabolic alkalosis, leading to a diagnosis of Bartters syndrome. Two of the patients also had hypomagnesemia. All the children were put on treatment for Bartter's Syndrome, and they responded well but unfortunately one of them was lost to follow-up

Comparison of oral versus injectable vitamin-D for the treatment of nutritional vitamin-D deficiency rickets

To assess the safety and acceptability of a single dose of vitamin-D versus the efficacy of injectable Vitamin-D versus oral vitamin-D. Case control. It was carried out at the Department of Paediatrics, Kharadar General Hospital, Karachi, from August 2003 to April 2004. Children of the age of 6 months to 3 years with clinical, biochemical and radiological evidence of vitamin-D deficiency rickets were included. The history, clinical examination, complete blood picture, serum calcium. Phosphorus, alkaline phosphatase and X-ray of wrist joint were done. The children were divided into two groups A and B. Group A was given oral vitamin-D and group B was given intramuscular injection of vitamin-D on the first day and then they were followed for two more visits at 30 and 90 days with clinical, biochemical and radiological examinations to assess the outcome. There were 50 confirmed cases of rickets in each group. The mean age was 10.9 +/- 5.1 months and 14.7 +/- 8.1 months in group A and B respectively. In these children, clinical features were weakness, difficulty in walking, frontal bossing, ribcage deformity and widening of wrist were seen. After one dose of vitamin-D [cholecalciferol], there was appreciable gain of weight and height and raised levels of alkaline phosphatase became normal during follow-up. Radiological florid rickets and non-florid rickets in both groups healed clinically during follow-up period. Oral and injectable forms of vitamin-D [cholecalciferol] were effective but injectable form was shown to be statistically significant. There were no undesirable side effects and both forms of treatment were well-tolerated

Familial chylomicronemia in a nine months old infant

Familial Chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial Chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial Chylomicronemia [Type 1 Hyperlipidemia]. The infant was started on a low fat diet and advised a regular follow-up

family with acute intermittent porphyria

Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, [neuropsychiatric], cutaneous and mixed forms. 1] There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria cutanea tarda and erythropoietic protoporphyria have predominantly cutaneous manifestations and hereditary coproporphyria and variegate porphyria are classified as mixed as they both have neuropsychiatric and cutaneous features. 2] They cause life-threatening attacks of neurovisceral symptoms that mimic many other acute medical and psychiatric conditions. Lack of clinical recognition often delays effective treatment, and inappropriate diagnostic tests may lead to misdiagnosis and inappropriate treatment. 3] Although the specific enzyme and gene defect have been identified, diagnosis and treatment of these disorders present formidable challenges because their signs and symptoms mimic other common conditions. We present a case report of a 13 years old girl who suffers from acute intermittent porphyria and the family tree showing all members who suffer from it