• Childhood Kidney Diseases
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• v.2 no.1
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• pp.60-68
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• 1998

Purpose: To determine the various prenatal factors related to the prenatal hydronephrosis diagnosed on prenatal ultrasonography. We also attempted to correlate the prenatal and neonatal renal pelvic anteroposterior diameter with the outcome in infancy Methods: Between 1985 and 1997. We retrospectively reviewed 105 renal unit (75 patient) with fetal hydronphrosis persisting postnatally. Investigation consisted of renal ultrasonography, voiding cystourethrography, diurectic renogram, and DMSA scan. Results: The 75 patient assesed had the following underlying cause: UPJ(Ureteropelvic juction) obstruction(52%). multicystic dysplastic kidney(10%). UVJ (Ureterovesicai juction) obstruction (10%) and no underlying cause (25%). Of theses cases 36 cases (40 renal unit) underwent operation, while 28 cases (50 renal unit) resoled spontaneously. 12% of mild hydornephrosis deteriorated. whereas 50% of modrate hydrophrosis and 81% of severe hydronephrosis required surgical correction. Attempting to find the renal unit that were at risk for deterioration. our study showed that urinary tract infection group and calyceal blunting group had a predictive role. Conclusion: It is necessary to follow up after birth dilatation of caylx or urinary tract infection are present. Early operation is considered when prenatal pelvic AP diameter greater is than 22 mm and postnatal diameter greater than 17 mm. This may make it possible to prevent further progression of renal damage and prompt treatment of asymptomatic hydronephrosis before complications occur.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.85-91
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• 2017

Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.