Repeated attacks of hereditary angioedema in pediatric female.

A 16-year-old female presented to an outpatient clinic with a 13-year history of recurrent episodes of abdominal pain, vomiting and mild cutaneous swelling, either spontaneously or following minor trauma. The episodes occurred every 1-2 months. There was no family history of a similar complaint or hereditary angio-oedema (HAE). At the age of 16, evaluation confirmed the diagnosis of HAE type II, characterised by low C4 levels and reduced C1 esterase inhibitor function. The patient was prescribed tranexamic acid 1 g twice daily as well as C1 esterase inhibitor used as rescue medication during symptomatic episodes. This case report emphasises the importance of considering a diagnosis of HAE in patients with recurrent, unexplained abdominal pain, even in the absence of a positive family history of HAE.Abbreviations: ANA Antinuclear antibodies; C1-INH C1-inhibitor; CBC Complete blood count; FMF Familial Mediterranean fever; HAE Hereditary angioedema; IBD Inflammatory bowel diseases; SDP Solvent detergent-treated plasma; SLE Lupus erythematosus.

Opportunities for Antimicrobial Stewardship in Caring for Febrile Pediatric Inpatients in Abu Dhabi.

Antimicrobial stewardship programs seek to improve patient outcomes, reduce cost, and hinder development of antimicrobial resistance. Collection of inpatient antimicrobial use data is foundational to these programs, and decisions to initiate and discontinue antibiotics are potentially amenable to improvement. In order to better understand our current practices and with a view toward improved antimicrobial stewardship, we reviewed charts of previously healthy children to age 16 years hospitalized with fever (without an evident localized source) and/or other findings suggestive of serious bacterial infection. Of 105 patients (18% 0-2 months of age, 42% 3-12 months, 25% 2-5 years), 100 (95%) received antibiotics, 72% for more than 2 days. Of 98 patients with negative body fluid cultures, 23 received antibiotics for 2 days or less, and 70 received antimicrobial therapy for more than 2 days. Focusing on selective initiation and earlier discontinuation of antimicrobial therapy in hospitalized children might reduce unnecessary antibiotic use.

Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity.

Summary: The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis. Patients with these underlying genetic mutations can have severe diseases with a high morbidity rate and frequent hospitalization. We report an Arab girl who presented with acute pancreatitis at the age of 7 years progressing to recurrent chronic pancreatitis over a few years. She had severe obesity from the age of 4 years and developed type 2 diabetes at the age of 12. She had a normal biliary system anatomy. Genetic analysis showed that she had combined heterozygous mutations in the SPINK1 gene (SPINK1, c.101A>G p.(Asn34Ser) and SPINK1, c.56-37T>C). Her parents were first-degree cousins, but neither had obesity. Mother was detected to have the same mutations. She had type 2 diabetes but never presented with pancreatitis. This case is the first to be reported from the Arab region with these combined mutations leading to recurrent chronic pancreatitis. It illustrates the importance of diagnosing the underlying genetic mutation in the absence of other known causes of pancreatitis. Considering the absence of pancreatitis history in the mother who did not have obesity but harboured the same mutations, we point out that severe obesity might be a triggering factor of pancreatitis in the presence of the mutations in SPINK1 gene in this child. While this is not an assumption from a single patient, we show that not all carriers of this mutation develop the disease even within the same family. Triggering factors like severe obesity might have a role in developing the disease. Learning points: Acute recurrent pancreatitis and chronic pancreatitis are uncommon in children but might be underdiagnosed. Biliary tract anomalies and dyslipidaemias are known causative factors for pancreatitis, but pancreatitis can be seen in children with intact biliary system. Genetic diagnosis should be sought in children with pancreatitis in the absence of known underlying predisposing factors. SPINK1 mutations can predispose to an early-onset severe recurrent pancreatitis and acute pancreatitis.