Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.

Gastrointestinal amyloidosis secondary to chronic tophaceous gout / 대한내과학회지

Secondary amyloidosis is associated with infectious, inflammatory, or neoplastic disorders. Gouty arthritis, unlike other forms of chronic inflammatory arthritis, is not usually associated with amyloidosis. A 70.year.old man was admitted because of generalized edema, anorexia, and diarrhea. He had been diagnosed with gouty arthritis 12 years earlier and took over-the-counter medication during acute attacks. The physical examination revealed multiple tophi on his ears, right hand, and right foot. No evidence of amyloidosis involving the heart or bone marrow was detected. Biopsy of the antrum, duodenum, ileum, and descending colon showed green birefringence with Congo red stain. Immunohistochemistry was strongly positive for amyloid A. We diagnosed him as having secondary gastrointestinal amyloidosis AA with chronic tophaceous gouty arthritis. Allopurinol was administered and oral rednisolone was increased. However, he died from septic shock 25 days after admission.

Histological Changes of the Cryptorchid Testis According to the Age / 대한비뇨기과학회지

PURPOSE: To obtain fundamental data for the ideal timing of an orchiopexy, we evaluated the histological findings of the cryptorchid testis based on the childrens age. MATERIALS AND METHODS: A total of 53 patients underwent orchiopexy and testis biopsy. Thirty eight patients with unilateral inguinal cryptorchid testis were divided into 4 groups based on their age; 4 yrs (n=7). The other groups included patients having intraabdominal testis (n=5), bilateral inguinal cryptorchid testis (n=7) and other accompanied diseases with cryptorchid testis (n=3). We measured all the testicular size and analyzed the following histological parameters; mean tubular diameter (MTD), mean tubular fertilization index (MTFI), germ cell count (GCC), Sertoli cell index (SCI) and interstitial cell fibrosis (ICF). RESULTS: In patients younger than 1 year, all the histological parameters such as MTD, MTFI, GCC, SCI and ICF were better than those of patients older. In all patients less than 2 years of age, the testicular size was smaller (p=0.068) but the histological parameters such as MTFI (p=0.011) and GCC (p=0.012) were significantly superior to those of patients older than 2 years. Most of the bilateral inguinal (n=6/7) and intraabdominal cryptorchid testis (n=3) exhibited a significantly lower MTFI and GCC than the age-matched unilateral inguinal cryptorchid testis. CONCLUSIONS: Orchiopexy should be performed within the first 2 years of age in order to prevent significant histological degeneration. Moreover, early orchiopexy is preferred during the first year of life. In particular, based on our limited data, earlier orchiopexy should be considered in patients with bilateral inguinal or intraabdominal cryptorchid testes.