Rapid strep testing in children with recently treated streptococcal pharyngitis.

IMPORTANCE: The use of the rapid antigen-detection test (RADT) has become the standard of care in the early diagnosis of group A beta-hemolytic Streptococcus (GAS) pharyngitis. Concern has been expressed over increased false positives when the child had been treated recently for GAS pharyngitis, resulting in over use of antibiotics. OBJECTIVE: To determine if the false positive rate for RADT is increased in children recently treated for GAS pharyngitis. METHODS: We conducted a prospective study to evaluate 300 children from a private practice with acute pharyngitis who were treated for GAS pharyngitis within the preceding 28 days (study group) compared to 306 children of comparable age who had not been previously treated (control group). RADT and throat culture were performed on all children presenting with signs and symptoms of acute pharyngitis. The false positive and false negative rates were determined and compared in both groups. RESULTS: The false positive rate of 11.5% (23/200) in the study group was significantly higher than the false positive rate of 0 in the control group. False positives were more likely to occur in younger children. INTERPRETATION: These data would indicate that while RADT is reliable in most children, it can lead to over treatment in children who have been recently treated for GAS. In children treated in the preceding 28 days for GAS pharyngitis, the presence of infection should be determined with a throat culture only. Treatment based on a positive RADT should be reserved for children not recently treated for GAS pharyngitis.

Barakat syndrome revisited.

Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in . It is a rare genetic disorder characterized by the triad of hypoparathyroidism "H," sensorineural deafness "D," and renal disease "R." The defect is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. Although the syndrome has been phenotypically defined by this triad the literature identifies cases with different components with, or without GATA3 defects making the definition of the syndrome confusing. We analyzed 180 cases and attempted to define the phenotype of the syndrome and suggest guidelines for diagnosis. We suggest that the diagnosis could be confirmed in patients who have all three components, and in those who have two components with a positive family history. GATA3 testing is optional to establish the diagnosis in these patients. The syndrome should be considered in patients with isolated "D" where other causes of "D" have been excluded and those with isolated "R," especially if there is family history of any of these components. In these instances, confirmatory GATA3 testing is indicated to confirm the diagnosis. In patients with nonsurgical "H," where "D" and "R" have been conclusively ruled out GATA3 studies are not needed as none of these patients were shown to be GATA3 haploinsufficient. Only 64.4% of patients in our review had "HDR." Some findings might have not been recognized or may could have appeared later in life, but it is evident that this syndrome is genotypically heterogeneous.

Presentation of renal disease in children.

CME EDUCATIONAL OBJECTIVES: 1.Review the modes of presentation of renal disease in children.2.Understand the role of the pediatrician in the management of children with renal disease.3.Outline the reasons for patient referral to the pediatric nephrologist.

Presentation of the child with renal disease and guidelines for referral to the pediatric nephrologist.

Renal disease is a major cause of morbidity and mortality. Pediatric patients with renal disease, especially younger ones may present with nonspecific signs and symptoms unrelated to the urinary tract. Pediatricians, therefore, should be familiar with the modes of presentation of renal disease and should have a high index of suspicion of these conditions. Affected patients may present with signs and symptoms of the disease, abnormal urinalysis, urinary tract infection, electrolyte and acid-base abnormalities, decreased renal function, renal involvement in systemic disease, glomerular and renal tubular diseases, congenital abnormalities, and hypertension. Pediatricians may initiate evaluation of renal disease to the extent that they feel comfortable with. The role of the pediatrician in the management of the child with renal disease and guidelines for patient referral to the pediatric nephrologist are presented.

Hereditary angioedema caused by c1-esterase inhibitor deficiency: a literature-based analysis and clinical commentary on prophylaxis treatment strategies.

Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease resulting from a mutation in the C1-inhibitor gene. HAE is characterized by recurrent attacks of intense, massive, localized subcutaneous edema involving the extremities, genitalia, face, or trunk, or submucosal edema of upper airway or bowels. These symptoms may be disabling, have a dramatic impact on quality of life, and can be life-threatening when affecting the upper airways. Because the manifestations and severity of HAE are highly variable and unpredictable, patients need individualized care to reduce the burden of HAE on daily life. Although effective therapy for the treatment of HAE attacks has been available in many countries for more than 30 years, until recently, there were no agents approved in the United States to treat HAE acutely. Therefore, prophylactic therapy is an integral part of HAE treatment in the United States and for selected patients worldwide. Routine long-term prophylaxis with either attenuated androgens or C1-esterase inhibitor has been shown to reduce the frequency and severity of HAE attacks. Therapy with attenuated androgens, a mainstay of treatment in the past, has been marked by concern about potential adverse effects. C1-esterase inhibitor works directly on the complement and contact plasma cascades to reduce bradykinin release, which is the primary pathologic mechanism in HAE. Different approaches to long-term prophylactic therapy can be used to successfully manage HAE when tailored to meet the needs of the individual patient.

22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.

We describe a two-year-old girl with 22q13 deletion syndrome (MIM # 606232), 46, XX, de l (22) (q13.31). ish del (22) (q13.31) (TUPLE 1+,ARSA-). The patient has hypotonia, normal growth, severe expressive language delay, mild mental retardation, and minor dysmorphic facial features. In addition, she had central diabetes insipidus that was diagnosed at age two days and resolved at age 27 months. To our knowledge, this association has not been reported previously. Infants with hypotonia, or those suspected to have this syndrome should have high-resolution chromosome analysis and fluorescent in situ hybridization (FISH) studies or molecular analysis, since the chromosomal deletion may be subtle and may go undetected on routine cytogenetic studies. The association of 22q13 deletion syndrome with central diabetes insipidus is reported for the first time.