• Childhood Kidney Diseases
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• v.2 no.1
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• pp.26-33
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• 1998

This retrospective study was designed to evaluate the prognostic value and histologic correlation of sonography in childhood nephrotic syndrome. Sixty-nine patients with proteinuria over 2g per day at the time of presentation who were treated at the Korea University Hospital were included in this review. They were 1 to 15 years old(mean age, 7.8 years) with 49 males and 20 females. In each patient an ultrasound examination was done using SPA 1000(Diasonics, C.A., U.S.A.) on admission. Tissue specimens were obtained from 46 patients. The paraffin-embedded specimens were reviewed with special reference to interstitial edema, interstitial fibrosis, tubular atrophy, global sclerosis or inflammatory cell infiltrates. Biopsy proven renal disease were minimal change disease(n=20), focal segmental glomerulosclerosis(n=7), membranous glomerulonephritis(n=2), membranoproliferative glomerulonephritis(n=1), $Henoch-Sch\"{o}nlein$ purpura nephritis(n=6), IgA nephropathy(n=5), poststreptococcal glomerulonephritis(n=2), systemic lupus erythematosus(n=1) and Alport syndrome(n=2). There was a significant relationship between increased cortical echogenicity and global sclerosis or tubular atrophy(P<0.05). But no significant relationship was found between increased cortical echogenicity and interstitial fibrosis, interstitial edema, or inflammatory cell infiltration. In biopsy-proven primary nephrotic syndrome(n=30), no significant relationship was found between the increased conical echogenicity and the interstitial edema, interstitial fibrosis, global sclerosis, tubular atrophy or inflammatory cell infiltration. But there was a significant relationship between increased cortical echogenicity and resistance to corticosteroid (P<0.05). These results suggest that increased cortical echogenicity may be due to tubular atrophy or global sclerosis in patients with proteinuria and may be an effective indicator of resistance to corticosteroid in primary nephrotic syndrome.(J Korean Soc of Pediatr Nephrol 2:26-33, 1998)

• The Korean Journal of Nuclear Medicine
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• v.26 no.2
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• pp.290-298
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• 1992

Although early diagnosis of urinary tract infection is important, the radiologic evaluation is still controversial because of the low sensitivity and the lack of cost-effectiveness. This study was carried out to evaluate the clinical utility of high resolution triple head $^{99m}Tc-DMSA$ SPECT imaging in urinary tract infection. We prospectively performed $^{99m}Tc-DMSA$ planar and SPECT imaging, ultrasound of kidney (US), intravenous pyelography (IVP) and voiding cystourethrography (VCU) in all 60 adult patients with UTI [26 with first episode of acute pyelonephritis (APN), 22 with recurrent APN, and 12 persistent asymptomatic pyuria] and 25 normal persons. To assess reversibility of the renal cortical defect (RCD), $^{99m}Tc-DMSA$ SPECT was repeated 1 to 8 months later in those patients with abnormal initial findings. Overall detection rate of $^{99m}Tc-DMSA$ SPECT imaging was 83% (50/60), but planar, US, IVP and VCU showed abnormal findings in 68%, 28%, 32% and 13%, respectively. 25 out of 27 patients with normal or single RCD were all normal in other radioligic studies. Only two patients showed vesicoureteral reflux (VUR) on VCU (grade I) and mild hydronephrosis on IVP. But, high proportion of those with multiple RCD showed abnormal findings on US (17/33), IVP (18/33), and VCU (7/33): 67% in any of these 3 studies. Especially, 3 out 7 patients with VUR showed multiple RCD on $^{99m}Tc-DMSA$ SPECT without any abnormality on IVP or US. 25 normal persons showed normal findings in all studies except one false positive finding on $^{99m}Tc-DMSA$ SPECT imaging. Follow-up $^{99m}Tc-DMSA$ SPECT was done in 28 patients (13 with single RCD, 15 with multiple RCD). All 13 patients with single RCD showed improvement. Those with multiple RCD presented improvement in 4, no change in 10, and aggravation in 1 on follow-up studies. With these results, we conclude: 1) $^{99m}Tc-DMSA$ SPECT imaging is superior to planar imaging, US, IVP or VCU in detection of renal lesion in urinary tract infection. $^{99m}Tc-DMSA$ SPECT is useful as a initial diagnostic tool in adult patients with urinary tract infection. 2) The multiple RCD on $^{99m}Tc-DMSA$ SPECT represent the high probability of irreversible tissue change and need of extensive urological work-up.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.655-660
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• 2009

Purpose : To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. Methods : Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. Results : A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. Conclusion : The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.

• The Korean Journal of Nuclear Medicine
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• v.28 no.1
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• pp.75-84
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• 1994

The need for assessment of ureteric function in the patient with an obviousely dilated ureter has increased particularly with the added spectrum of asymptomatic patients presenting with hydrone-phrosis and hydroureter on antenatal and perinatal ultrasound. To assess the influence of ureteral status on kidney washout during $^{99m}Tc$-DTPA diuretic renography, ureteral images were reviewed in 80 children referred for hydronephrosis. A scintigraphically abnormal ureter was defined as an intense and continuous image of > 10 min during diuretic renography. Out of them, a total of 16 nephroureteral systems in 12 children with scintigraphically abnormal ureter were analyzed. A diuretic washout index using response half time (t1/2) by linear fitting after lasix injection, was determined on renal (Kt1/2) and ureteral (Ut1/2) curves (diuretic renogram vs. diuretic ureterogram). Diuretic ureterogram curve patterns corresponding to normal (type I), obstructive (II) and non-obstructive (III) cases were described. Compared with X-ray data, diuretic renography was highly sensitive (88%) and specific (99%) for detecting any ureteral abnormality. Despite an obstructive Kt1/2 (>20 min), no patient with an abnormal ureter underwent therapy at the ureteropelvic junction because the hydronephrosis regressed after surgery at the lower level. Our data indicate that the abnormal ureter findings during diuretic renography have to be recognized before therapy for children with hydeonephrosis.