A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

Prognostic Factors of Renal Scarring on Follow-up DMSA Scan in Children with Acute Pyelonephritis

PURPOSE: Early diagnosis and treatment of urinary tract infection have been emphasized to prevent renal scarring. If untreated, acute pyelonephritis could cause renal injury, which leads to renal scarring, hypertension, proteinuria, and chronic renal failure. The purpose of this study was to assess risk factors of renal scarring after treatment of acute pyelonephritis (APN). METHODS: The medical records of 59 patients admitted at Daegu Fatima Hospital because of APN between March 2008 and April 2015 whose renal cortical defects were confirmed by using initial technetium-99m dimercaptosuccinic acid (DMSA) scans were reviewed retrospectively. We divided 59 patients into 2 groups according to the presence of renal scar and assessed risk factors of renal scar, including sex, age at diagnosis, feeding method, hydronephrosis, bacterial species, vesicoureteral reflux, and vesicoureteral reflux grade. RESULTS: Of 59 patients (41%), 24 showed renal scar on follow-up DMSA scan. No significant differences in sex, hydronephrosis, bacterial species, and fever duration were found between the renal-scarred and non-scarred groups. As for age at diagnosis, age of >12 months had 5.8 times higher incidence rate of renal scarring. Vesicoureteral reflux (VUR) affected renal scar formation. VUR grade III or IV had 14.7 times greater influence on renal scar formation than VUR grade I or II. CONCLUSION: Our data suggest that the presence of VUR and its grade and age at diagnosis are risk factors of renal scar on follow-up DMSA scan after APN.