• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.142-149
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• 2014

Purpose: There are 15 types of Glycogen storage disease (GSD) that have been identified, and GSD type Ia is the most common type. There are several studies of Korean GSD type Ia patients' long-term complications. The aim of this study to find out clinical symptoms and prognosis of GSD type Ia patients. Methods: We performed clinical, biochemical and genetic analysis retrospectively on five patients diagnosed with GSD type Ia in a Soonchunhyang University Hospital from July 2002 to July 2014. Results: All patients had hepatomegaly at diagnosis, and they were all confirmed to have fatty liver at abdomen USG. They had no developmental delay, but two of them had growth retardation. Elevated blood lactate, triglyceride, and uric acid levels can find out all patients, but only one patient had hypoglycemia. They are diagnosed with GSD through gene analysis, and by gene analysis, they have c.648G>T (homozygote, splicing mutation), c.122G>A/c.648G>T, c.248G>A/c.648G>T mutations. Treatment with three times meals, three times snacks and four to six times use of uncooked constarch for all patients. Following the progress, one of them resulted in hypothyroidism, other one had renal stones. A patient diagnosed at 16 years old had liver cirrhosis and started having hemodialysis for ESRD. Conclusion: GSD type Ia patients had hepatomegaly, hyperlipidemia, hyperuricemia, and lactacidemia. Therefore patients who have such these symptoms are recommended gene analysis. A patient diagnosed at 16-years-old had liver cirrhosis and ESRD in progress, early diagnosis and treatment are important for GSD type Ia patients.

• Childhood Kidney Diseases
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• v.10 no.1
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• pp.58-64
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• 2006

In the clinical state of vitamin D deficiency, it is possible that associated phosphate depletion, parathyroid hormone excess, and hypocalcemia may all depress the proximal tubular reabsorption of bicarbonate, in addition to abnormal skeletal modeling or remodeling, Although nutritional rickets is considered a rare disease in developed countries nowadays, cases of vitamin D deficient rickets caused by various unhealthy lifestyles such as insufficient exposure to sunlight, breast feeding infants without giving vitamin D supplements, unbalanced vegetarian diets of breast feeding mothers, low-birth weight, and maternal deficiency of vitamin D or calcium are increasing. Here, we present the case of an 8 month old girl, who was completely breastfed without any weaning diet or infant vitamin supplements. She visited our emergency room with hypocalcemic seizure and subsequently was diagnosed with vitamin D deficient rickets accompanied by overt bone changes and proximal renal lobular acidosis. After intravenous(IV) and oral calcium replacement therapy(IV calcium gluconate injection 1 mEq/kg/day for 6 days, 2 mEq/kg/day for 4 days followed by oral calcium gluconate administration 4 g/day for 3 days) with vitamin D supplement(Alfacalcidol 0.5 mcg/day) during admission, serum calcium level was normalized with clinical improvement. Oral sodium bicarbonate(0.6 g/day) was administered from the $2^{nd}$ hospital day for 2 weeks, which normalized the serum bicarbonate(measured by $tCO_2$) level. Calcium and vitamin D replacement were continued for 2 weeks and 3 months each. After discontinuing medications, follow up laboratory findings showed good maintenance of serum calcium, alkaline phosphate and bicarbonate levels with complete improvement of bone X-ray findings.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• The Korean Journal of Nuclear Medicine
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• v.24 no.2
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• pp.299-306
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• 1990

골 신티그라피에서 신장이 희미하게 보이거나 전혀 안보이게 되는(이하 신장 영상 비출현이라 함) 원인 질환을 파악하고, 또 골 신티그라피에서 골전이가 발견된 여러 악성종양에서 신장 영상 비출현의 빈도 및 신장 영상 비출현의 소견을 보이는 여러 악성종양의 골전이 범위를 관찰하기 위하여, 서울대학교 병원에서 최근 6년간 시행한 골 신티그람 중 신장 영상 비출현의 소견을 보이는 889개를 재검토하였다. 신장영상 비출현의 원인 질환으로는 신부전이 대부분을 차지하였으나(816/889 : 91.8%), 신장 질환이 없는 경우에서는 광범위한 골전이가 가장 많았으며 (53/889 : 6.0%), 그 원발부위는 전립선암 (19/53 : 35.8%), 위암(14/53 : 26.4%), 유방암(5/53 : 9.4%), 폐암(4/53 : 7.5%) 신세포암(2/53 : 3.8%), 방광암(1/53 : 1.9%), 원발부위 미상(8/53 : 15.1%)으로 전립선암과 위암이 가장 많았다. 특히 강직성 척추염 4예, 류마토이드 관절염 3예, 성인형의 골화석증 1예에서 신장 영상 비출현의 소견을 보여 이채로왔으며, 이 밖에 원발성 부갑상선 기능항진증 및 그레이브스병이 각 1예씩 있었으며 원인을 알 수 없는 경우가 10예 있었다. 전립선암 140예중 골 신티그라피에서 골전이가 발견된 예는 108예(77.1%), 이중 신장 영상 비출현의 소견을 보이는 예는 19예(19/108, 17 6%)이었으며, 위암에서는 각각 328예, 162예(49.4%), 14예 (8.6%), 유방암에서는 각각 1754예, 730예 (41.6%), 5예(0.7%), 폐암에서는 각각 1105예, 596예(53.9%), 4예(0.7%), 방광암에서는 각각 247예, 110예(44.5%), 1예(0.9%)로 전립선암에서 신장 영상 비출현의 빈도가 가장 높았으며, 특히 위암에서 골전이 및 신장 영상 비출현의 빈도가 높아 주목되었다. 골전이 및 신장 영상 비출현의 소견을 보이는 악성종양 환자의 골 신티그람 53개중 44개 (83.0%)에서 척추 및 늑골에 미만성, 또는 다발성 침습이 관찰되었다. 또 골전이 부위를 두개골, 척추, 견대부, 늑골, 골반, 사지의 근위부 장골의 6개 부위로 나누어 분석할 경우 49개(92.5%)에서 3부위 이상에 전이가 발견되었고, 35개(66.0%)에서 4부위 이상에 전이가 발견되었으며, 5부위 이상, 6개 부위에 모두 전이가 발견된 것은 각각 20개 (37 7%), 11개(20.8%)이었다. 이상의 성적으로 보아 악성종양 환자의 골 신피그라피에서 신장 영상의 비출현은 종양의 광범위한 골전이를 간접적으로 시사하는 소견으로 생각된다. 여러 악성종양중 전립선암에서 신장 영상 비출현의 빈도가 가장 높았으며, 특히 위암에서 골전이 및 신장 영상 비출현의 빈도가 높음은 주목할 만한 것이라 하겠다.

• Childhood Kidney Diseases
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• v.15 no.1
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• pp.38-48
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• 2011

Purpose: Focal segmental glomerulosclerosis (FSGS) is the most common glomerulopathy causing pediatric renal failure. Since specific treatment targeting the etiology and pathophysiology of primary FSGS is yet elusive, the authors explored the pathophysiology of FSGS by transcriptome analysis of the disease using an animal model. Methods: FGS/kist strain, a mouse model of primary FSGS, and RFM/kist strain, as control and the parent strain of FGS/kist, were used. Kidney tissues were harvested and isolated renal cortex was used to extract mRNA, which was run on AB 1700 mouse microarray chip after reverse transcription to get the transcriptome profile. Results: Sixty two genes were differentially expressed in FGS/kist kidney tissue compared to the control. Those genes were related to cell cycle/cell death, immune reaction, and lipid metabolism/vasculopathy, and the key molecules of their networks were TNF, IL-6/4, IFN${\gamma}$, TP53, and PPAR${\gamma}$. Conclusion: This study confirmed that renal cell death, immune system activation with subsequent fibrosis, and lipid metabolism-related early vasculopathy were involved in the pathophysiology of FSGS. In addition, the relevance of methodology used in this study, namely transcriptome profiling, and Korean animal model of FGS/kist was validated. Further study would reveal novel pathophysiology of FSGS for new therapeutic targets.

• Childhood Kidney Diseases
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• v.8 no.2
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• pp.195-204
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• 2004

Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. Methods: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. Results: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin $D_3$ Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. Conclusion: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.63-68
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• 2000

Purpose: MCDK is regarded as a common cause of abdominal masses in children. And the presentation of the MCDK is usually a unilateral flank mass in the a newborn. Bialteral disease results in either fetal demise or necessity fer renal replacement therapy at birth. This study is designed to assess the clinical features and natural history of the unilateral multicystic dysplastic kidney. Patients and Methods: From January 1987 to January 2000 data were obtained retrospectively on 57 patients (28 boys and 29 girls, age ranged 1day-11years) who had a diagnosis of multicystic dysplastic kidney. The diagnosis of multicystic dysplastic kidney was confirmed by a combination of ultrasonography and radionuclide scan. Voiding cystourethrogram study in 31 patients were done to determine the condition of the contalateral kidney. Restllts: $84\%$ of the patients were diagnosed before birth by antenatal ultrasonography Clinical manifestations of children with postnatal diagnoses were palpable abdominal mass($3.5\%$), abdominal distension($17\%$), and incidental($10.5\%$). The abnormalities in contralateral kidney were hydronephrosis($21\%$), compensatory hypertrophy($12\%$), simple cyst($2\%$), bifid pelvis($2\%$). Surgical management was performed in 20 patients($35\%$) due to recurrent infection, for diagnostic purpose to differentiate from malignancy and abdominal distention. Follow-up in the remaining 37 patients continued (mean 18 months) and results of sonogram findings were involution change in 23 patients($40\%$) and no interval changes in 13 patient($23\%$). Conclusions : The apparent tendency to regression of the dysplastic kidney and no difference in the number of complications justify a conservative management rather than operative intervention except in associated severe complications such as urinary tract infection or rupture of cysts.

• Journal of Yeungnam Medical Science
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• v.18 no.1
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• pp.85-93
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• 2001

Background: The number of glomerulus has been considered one of the etiologic factors especially for focal segmental glomerulosclerosis. However, glomeruli are too many to calculate them correctly. Although the fractionator method has became convinced, in which they used selected sections, not whole kidney sections, with same intervals, it is also very hard to get good results. Because it is still very time-consuming and laborous work which leads to make big observers' biases. Methods and Materials: We designed the index for glomerular number to estimate the tendency of increase or decrease of the number of it in different kidneys and which was evaluated by other conventional methods including fractionator method. Index was based upon the theory by Nyengaard; "the number of glomerulus correlates with the weight of kidney, which is positively correlated with body weight". Calculating formula is the number of glomeruli/surface areas of cortices, which contain calculated glomeruli multiplies by kidney weight/body weight. Results: We applied this index to kidneys of FGS/Kist mouse and those of RFM/Nga mouse. The former is spontaneous glomerulosclerosis model with heavy protein uria and renal failure and the latter is the mother side of FGS/Kist mouse but has no glomerular disease or protein uria. The number of glomerulus of FGS/Kist mouse was decreased by 30% to those of RFM/Nga mouse. Conclusion: This index was useful and reliable for estimating the relative glomerular number between two groups.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.204-210
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• 2003

Membranoproliferative glomerulonephritis type II(MPGN II), also called dense deposit disease, was first described by Berger and Galle in 1963. The diagnosis of MPGN II is based on electron-microscopic finding of an intensely electron-dense substance which replaces the lamina densa of the glomerular basement membrane. Although the etiology and pathogenesis of MPGN II are unknown, it frequently progresses to end-stage renal failure. Typically in MPGN II, hypocomplementemia due to activation of the alternative complement pathway is present. In addition, the association of MPGN II with partial lipodystrophy and complement abnormalities is well documented. The relationship between these associated features and the patient's renal functional outcome is not clear. With respect to the therapy for MPGN II, an alternate-day prednisolone regimen was shown to be effective. Various treatment modalities, including immunosuppression with corticosteroids, cytotoxic drugs and cyclosporin A, anticoagulants and antiplatelet therapies are used, either alone or in combination, with varying degrees of success. The purpose of this paper is to present a case of MPGN II from a 7 years old girl with paroxysmal supraventricular tachycardia(PSVT).

• Childhood Kidney Diseases
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• v.3 no.1
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• pp.80-87
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• 1999

Purposes : Renal involvement is a potentially serious complication of systemic lupus erythematosus (SLE). There have been only few studies of lupus nephritis in pediatric age. In this study, the clinical manifestations, pathologic findings, response to treatment, and clinical course of lupus nephritis in children were analyzed. And the results will provide basic data for future nation-wide prospective multi-center study. Methods . The medical records of 46 children clinically and pathologically diagnosed to have lupus nephritis at Seoul National University Children's Hospital during 1986 to 1997 were analyzed retrospectively. Results : 1) The median age of diagnosis of lupus nephritis was 12.8 years ($2\;years\~\;15year$ 8months), and the sex ratio was 1:2.5. 2) FANA($85.7\%$), anti-ds-DNA antibody ($78.0\%$), and malar rash ($60.8\%$) were the most common findings among the classification criteria by ARA Decreased C3 was detected in $88.9\%$ of patients. 3) Hematuria ($87.0\%$) was the most common renal symptom, and WHO class IV lupus nephritis was identified in 41 cases by renal biopsy. 4) In most of patients, the disease activity was controlled relatively well with a single or combined therapy of prednisolone, azathioprine, or cyclophosphamide. The response revealed no difference according to the mode of treatment. 5) Infection, especially of Varicella-Zoster virus and candida, was the most common complication during the disease course. Conclusion : The renal involvement was noted in $87.0\%$ of childhood SLE, and $89.1\%$ of renal lesions was WHO class IV lupus nephritis known to associated with poor long-term prognosis. So, aggressive treatment using immunosuppressants in the early disease course may be helpful to increase long-term prognosis of lupus nephritis. A prospective multi-center study is necessary to analyze the therapeutic efficacy of various treatment modalities.