• Childhood Kidney Diseases
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• v.2 no.2
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• pp.145-151
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• 1998

Purpose : DMSA renal scan is known as a valuable method for evaluating acute pyelonephritis and renal scar in patients with febrile urinary tract infection or vesicoureteral reflux. We made this study, to determine the most effective use of DMSA renal scan. Methods : 155 children were admitted to the Pediatric Department of Yonsei University, Severance hospital with the symptom of urinary tract infection from January, 1992 to June, 1995. DMSA scan, renal ultrasound and VCUG were performed. One consisted of 29 patients with the diagnosis of acute pyelonephritis without vesicoureteral reflux and the otherconsistedofllpatientswithvesicoureteralreflux. Results : The follow-up DMSA scans at mean $0.99{\pm}0.46$ months after the initial DMSA scans were performed in the 29 children with acute pyetonephritis. 21($72.4\%$) of 29 children showed normal DMSA scans. 8 children with abnormal DMSA scans had follow-up DMSA scans at 2.5 months after the initial scans and 6 of 8 children showed normal DMSA scans. Only 12($41.4\%$) of 29 children showed abnormal renal ultrasound. The data about DMSA scans in 32 children with vesicoureteral reflux showed that there were abnormal DMSA scans in Grade $I;25.0\%$, Grade $II;44.5\%$, Grade $III;64.3\%$, Grade $IV;92.9\%$ and Grade $V;100.0\%$. There was a significant difference in that 36 renal unit ($68.0\%$) on DMSA renal scan and 26 renal units ($49.1\%$) on renal ultrasound showed abnormal finding(P<0.05). Conclusion : DMSA renal scan is more useful than renal ultrasound for the diagnosis of acute pyelonephritis. It is considered that if the initial DMSA scan is abnormal, a follow-up DMSA scan must be performed after 10weeks (8-12weeks) and the change in DMSA scan evaluated.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.