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Biomedical subjects

Hae Il Cheong

Publications and source records attributed to Hae Il Cheong.

At least 19 recordsLinked to original sources
PubMed2006

Clinical outcomes of childhood lupus nephritis: a single center's experience.

This study retrospectively reviewed the medical records of children with lupus nephritis (LN) who were treated at Seoul National University Children's Hospital from 1986 to 2005 (mean duration 8.3+/-4.4 years). The records of 77 children (22 male and 55 female) were examined. The mean age at diagnosis was 11.9+/-3.0 years. The initial biopsy results revealed a WHO class IV classification for 60 (88.2%) of 68 biopsy proven cases. Of 77 patients, 67 (87.0%) responded initially to the high-dose corticosteroids with or without additional immunosuppressive therapy. Of the initial responders (67), 30 (44.8%) experienced at least one episode of proteinuric (24) or nephritic (6) flare. Thirteen patients (16.9%) progressed to either chronic renal failure (CRF) or end-stage renal disease (ESRD). Six (7.8%) patients died. A Kaplan-Meier estimate of patient survival and CRF-free survival rate was 95.4% and 88.7% at 5 years and 91.8% and 74.7% at 10 years, respectively. Multivariate analysis for class IV LN revealed male gender (P=0.029), initial hypertension (P=0.001) and absence of remission (P=0.002) to be prognostic factors predicting CRF. Glomerulosclerosis of 10% or more (P=0.005), nephritic flare (P=0.011), and presence of anti-phospholipid antibody (P=0.017) or syndrome (P=0.004) were also found to be independent risk factors for CRF. Cyclophosphamide pulse therapy failed to demonstrate superiority over other combined immunosuppressants used for the treatment of diffuse proliferative LN.

Adolescent↗
PubMed2006

Pattern of double glomerulopathy in children.

Occasional case reports have been issued on children with double glomerulopathy, involving either the coexistence of two different glomerulopathies or superimposition of a second glomerulopathy onto a first. A retrospective clinicopathological review of 294 children who had received renal biopsies resulted in 9 (3.1%) being confirmed to have double glomerulopathy. Superimposed glomerulopathy was diagnosed by a second renal biopsy in two cases, and coexistence of two glomerulopathies was confirmed by single biopsy in seven. Original glomerulopathies were those with a chronic course, such as Alport syndrome, IgA nephropathy, relapsing minimal-change nephrotic syndrome, Frasier syndrome, and thin basement membrane nephropathy. The superimposing glomerulopathies were common types in children, such as postinfectious glomerulonephritis, IgA nephropathy, and Henoch-Schönlein nephritis. Thus, the pattern of double glomerulopathy was considered to be due to the chance occurrence of two different glomerulopathies without a common pathogenesis. Acute nephritic symptoms of superimposed glomerulopathies resolved almost completely during follow-up in most cases. Double glomerulopathies are not rare in children and may occur by chance alone in most cases. The possibility of superimposed glomerulopathy should be suspected if the clinical course of a glomerulopathy changes atypically. However, the long-term influence of a superimposed glomerulopathy on renal functional deterioration remains unclear.

Child↗
PubMed2006

Primary focal segmental glomerular sclerosis in children: clinical course and prognosis.

To review the clinical course and identify prognostic factors, we retrospectively analyzed 92 children with steroid-resistant primary focal segmental glomerulosclerosis (FSGS). The mean age of onset was 80.4+/-42.4 months. The mean follow-up duration was 98.2+/-63.3 months. Eighty-five patients presented with nephrotic syndrome and seven presented with asymptomatic proteinuria. Thirty-three patients were initial responders to steroid treatment (late non-responders) and 59 were initial nonresponders. At last follow-up, 36 patients (39.1%) were in complete remission, and 29 (31.5%) progressed to chronic renal failure (CRF). Renal survival rates at 5, 10, and 15 years were 84, 64, and 53%, respectively. By morphological classification, there were tip variants (6.1%), collapsing variants (10.6%), cellular variants (1.5%), perihilar variants (9.1%), and NOS (not otherwise specified, 72.7%). Among the variants, there were no significant differences in age of onset, degree of proteinuria, response to treatment, or progression to CRF. Poor prognostic factors for CRF included: asymptomatic proteinuria at presentation, initial renal insufficiency, higher segmental sclerosis (%), severe tubulointerstitial change, initial nonresponse, and absence of remission. In the multivariate analysis, an increase in the initial serum creatinine and resistance to treatment were independent risk factors for CRF. A more prolonged use of corticosteroid therapy and early introduction of cyclosporin A (CsA) may improve the prognosis for primary FSGS in patients with initial steroid nonresponsiveness.

Adolescent↗
PubMed2006

Idiopathic membranous nephropathy in children.

Idiopathic membranous nephropathy (MN) is a rare cause of asymptomatic proteinuria (AP) or nephrotic syndrome (NS) in childhood. To improve our understanding of its clinical course, we retrospectively reviewed 19 cases of idiopathic MN seen in our hospital over a period of 28.5 years, i.e., from January 1977 to July 2005. Eight patients (39%) had AP and 11 (61%) presented with NS. All eight AP patients achieved remission, regardless of treatment modality. Oral corticosteroid was given to all 11 NS patients, but only three of them responded to corticosteroid. Of the eight steroid non-responders, three achieved remissions with the addition of cyclosporine, and the five who were not administered additional immunosuppressive drugs had persistent NS. At the latest evaluation, all six NS patients that achieved remission remained free of proteinuria and had a normal renal function. Moreover, two of the 5 steroid non-responders showed persistent nephrotic-range proteinuria but a stable renal function. The remaining three steroid non-responders progressed into chronic renal insufficiency, and this progression was preceded by renal vein thrombosis (RVT) in two of the three patients. Presentation with NS (P=0.045) and the development of RVT (P=0.010) were identified as poor prognostic factors.

Adolescent↗
PubMed2006

Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect.

The Wilms tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and the gonads, and clinical syndromes associated with WT1 mutations, such as WAGR syndrome, Denys-Drash syndrome and Frasier syndrome, typically manifest as renal and genitourinary abnormalities. WT1 may also play an important role in the development of the diaphragm, and recently several papers have reported an association between WT1 mutations and diaphragmatic hernias. In addition, WT1 mutations were also detected in some patients with Meacham syndrome, a rare malformation syndrome comprising congenital diaphragmatic hernia, double vagina, sex reversal, and cardiac malformations. Here, we report a case of an infant with typical clinical features of Deny-Drash syndrome and a heterozygous missense mutation, Arg366His, in the WT1 gene, in whom a diaphragm defect was detected after starting peritoneal dialysis. Diaphragmatic defects are rare but may be considered as clinical manifestations of WT1 mutation syndromes. In addition, we suggest that WT1 abnormalities should be suspected in patients with chronic renal failure who develop hydrothorax after peritoneal dialysis, especially in those with genitourinary abnormalities.

Amino Acid Substitution↗
PubMed2006

Nephrotic syndrome in a child after umbilical-cord-blood transplantation.

We report a 12-year-old girl who developed nephrotic syndrome 6 months after umbilical-cord-blood transplantation (UCBT) for acute lymphoblastic leukemia (L2). In addition to nephrotic syndrome, she also showed autoimmune hemolytic anemia, thrombocytopenia and gastrointestinal symptoms. Since these symptoms were manifested during the course of tapering immunosuppressive agents, a diagnosis of chronic graft-versus-host disease (GVHD) was made. Findings from a kidney biopsy were compatible with minimal-change disease (MCD), and focal glomerular capillary thrombosis and mild tubular damage were also noted. She was treated with methylprednisolone pulse therapy followed by oral prednisolone. Proteinuria disappeared in 14 days. Gastrointestinal symptoms, anemia and thrombocytopenia were also corrected. This is a case report of nephrotic syndrome as a manifestation of chronic GVHD developed after stem-cell transplantation. A review of the cases reported in the literature is also made.

Adolescent↗
PubMed2006

Nutcracker syndrome in children with gross haematuria: Doppler sonographic evaluation of the left renal vein.

BACKGROUND: Nutcracker syndrome is characterized by gross haematuria caused by left renal vein (LRV) entrapment. OBJECTIVE: To assess the role of LRV ultrasonography in the diagnosis of the nutcracker syndrome in children. MATERIALS AND METHODS: Twelve children (eight male, four female; mean age 12.8 years) with venographically confirmed nutcracker syndrome (LRV-IVC pressure gradient > or = 3 mm Hg) underwent LRV sonography including Doppler spectral analysis (n=7). The diameter and peak velocity (PV) were measured at two sites of the LRV (renal hilum and aortomesenteric portion). The US findings of nutcracker syndrome were compared with those of 20 control subjects using the t-test. We identified the optimal cut-off value of the US parameters for the diagnosis of the nutcracker syndrome using ROC analysis. RESULTS: The PV at the aortomesenteric portion and the ratio of the PV between the two measured points showed significant differences between the two groups (P<0.0001). The optimum cut-off values were found to be 4.7 for the PV ratio (sensitivity 100%, specificity 90%, accuracy 93%), and 93 cm/s for the PV at the aortomesenteric portion (sensitivity 100%, specificity 85%, accuracy 89%). CONCLUSION: LRV sonography, including Doppler spectral analysis, can demonstrate LRV entrapment haemodynamically.

Adolescent↗
PubMed2006

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia. Direct sequencing of WT1 PCR products from genomic DNA identified WT1 mutations in exons 8 (366 Arg>His) and 9 (396 Asp>Tyr). These mutations have been reported previously in association with Denys-Drash syndrome (DDS) with early onset renal failure. Therefore we suggest that, at least in part, IDMS is a variant of DDS and that investigations for the WT1 mutations should be performed in IDMS patients. In cases with identified WT1 mutations, the same attention to tumor development should be required as in DDS patients, and karyotyping and serial abdominal ultrasonograms to evaluate the gonads and kidney are warranted.

Base Sequence↗
PubMed2005

A case of atypical hemolytic uremic syndrome with a transient decrease in complement factor H.

We report a case of sporadic atypical hemolytic uremic syndrome (HUS) with a transient decrease in complement factor H. Referred for hemolysis and azotemia without diarrhea prodrome, this 31-month-old boy showed a decreased complement 3 (C3) and complement factor H (FH) level. However, the factor H gene (HF1) mutation was missing. After the hemolysis was controlled with plasma infusion, the C3 and FH levels recovered. The patient's renal function fully recovered and remained normal, and there was no recurrence of the HUS.

Child, Preschool↗
PubMed2005

Unilateral renal angiodysplasia in a girl with hypertension.

We report a case of very unusual renal vascular anomaly: angiodysplasia. The patient suffered from acute pyelonephritis immediately after birth. Renal ultrasonography, performed at age 1 day, revealed an enlarged left kidney with heterogeneously increased echogenicity, which involuted rapidly in 3 months. At age 10 years, she presented with severe hypertension during a course of acute pyelonephritis. Peripheral plasma renin activity was high. Computed tomographic angiogram revealed a very small but functioning left kidney. A single, narrow, left renal artery did not have focal stenosis. Pathology examination revealed dysplastic arterioles at the subcapsular area. After left nephrectomy, the blood pressure and the plasma renin activity were normalized. In conclusion, this is an unusual case of renal angiodysplasia, which induced renin-dependent hypertension.

Angiodysplasia↗
PubMed2005

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder, is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle and an eventual progression to end-stage renal disease. Recent studies have reported that this disease is caused by mutations in the CLDN16 gene, which encodes the tight junction protein, paracellin-1. Paracellin-1 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on two Korean siblings with typical clinical features of FHHNC in association with compound heterozygous mutations, G233C and 800delG, in CLDN16. Their parents were asymptomatic heterozygous carriers of the single mutations. This is the first report of FHHNC in Korea, and the mutations reported are novel.

Base Sequence↗
PubMed2005

Mutational analysis of idiopathic renal hypouricemia in Korea.

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. Most patients are clinically silent, but acute renal failure (ARF), urolithiasis, or hematuria may develop. A defect in the SLC22A12 gene, which encodes the renal uric acid transporter, URAT1, is the known major cause of this disorder. We performed a mutational analysis of the SLC22A12 gene in five Korean patients with idiopathic renal hypouricemia in this study. Two patients presented with microscopic hematuria, one with uric acid urolithiasis, and one with exercise-induced ARF. One patient was asymptomatic. Three different mutations, W258X, R90H and R477H, were detected in four of the patients. However, no mutation was found in the fifth ARF patient. This is the first study of SLC22A12 mutations in a country other than Japan. W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.

Acute Kidney Injury↗
PubMed2005

Phenotype and genotype of Dent's disease in three Korean boys.

Dent's disease is a hereditary renal tubular disorder caused by mutations of the CLCN5 gene and is clinically characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. This disease has been reported in several countries. However, there are some phenotypic differences between countries, such as hypophosphatemic rickets, progressive renal failure and hematuria. In this study, phenotypes were analyzed in three Korean boys with Dent's disease, and genetic diagnoses were performed using a new convenient method using peripheral blood RNA. Gene studies revealed two nonsense mutations, R637X in two patients and E609X in one patient. The phenotypes of the two patients with R637X were very similar to those of Japanese patients, i.e., they presented with asymptomatic proteinuria without rickets, renal failure or hematuria. The E609X patient was diagnosed genetically at 3 months of age before the onset of clinical symptoms because of superimposed furosemide-induced nephrolithiasis. This is the first report to characterize mutations in the CLCN5 gene in Korean patients with Dent's disease, and expands the spectrum of CLCN5 mutations by reporting a novel mutation, E609X. In addition, the mutational analysis using peripheral blood RNA can be easily applied in the clinical diagnosis.

Arginine↗
PubMed2005

Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene.

BACKGROUND: Systemic amyloidosis occurring in early childhood is extremely rare, and is usually of AA type complicating chronic inflammatory diseases. We report the molecular basis of amyloidosis in a Korean girl who presented at 7 years of age with asymptomatic proteinuria and developed amyloid hepatomegaly and end-stage renal failure within 2 years. METHODS: Renal biopsy showed enlarged glomeruli virtually replaced by amyloid, but without interstitial or vascular involvement. The histologic appearance was identical to that seen in patients with hereditary fibrinogen Aalpha chain Glu526Val amyloidosis, and the amyloid deposits stained specifically with antibodies to fibrinogen. Mutations were sought in the genes of the amyloidogenic proteins, transthyretin, apolipoprotein AI, lysozyme and fibrinogen Aalpha chain genes by polymerase chain reaction (PCR) and sequencing. RESULTS: A unique frameshift insertion-deletion (indel) mutation was identified in one allele of her fibrinogen Aalpha chain gene, which encodes a partly novel peptide and a premature stop signal, similar to the two previously reported amyloidogenic point deletions at codons 522 and 524 in this molecule. The mutation was absent in samples verified to be from her parents, indicating that it had occurred de novo. CONCLUSION: This is the first description of hereditary fibrinogen Aalpha chain amyloidosis in an Asian individual, and the distinctive renal histology offered a strong clue to the diagnosis. The disease is potentially curable by combined hepatorenal transplantation.

Amino Acid Sequence↗
PubMed2005

Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. The evaluation for polyuria and polydipsia in a one-month-old Korean girl revealed no response to vasopressin and confirmed the diagnosis of CNDI. Because the child was female without family history of CNDI, her disease was thought to be an autosomal recessive form. We analyzed the AQP2 gene and detected a compound heterozygous missense point mutation: 70Ala (GCC) to Asp (GAC) in exon 1 inherited from her father and 187Arg (CGC) to His (CAC) in exon 3 inherited from her mother. The first mutation is located within the first NPA motif of the AQP2 molecule and the second one right after the second NPA motif. This is the first report to characterize AQP2 mutations in Korean patients with autosomal recessive CNDI, and expands the spectrum of AQP2 mutations by reporting two novel mutation, 70Ala (GCC) to Asp (GAC) and 187Arg (CGC) to His (CAC).

Aquaporin 2↗
PubMed2004

Age-related differences in adriamycin-induced nephropathy.

We investigated the effects of age on adriamycin-induced nephropathy in mice. Disease was produced by a single intravenous injection of adriamycin (doxorubicin hydrochloride) (AD, 20 mg/kg) in female Balb/C mice of 5 and 12 weeks of age. Urinary protein and transforming growth factor (TGF)-beta1 concentrations were measured and the extent of glomerular sclerosis/hyalinosis and tubulointerstitial fibrosis was scored. Decorin and fibromodulin expression was quantified using reverse transcription-polymerase chain reaction. In normal mouse kidneys, urinary TGF-beta1 excretion and decorin and fibromodulin mRNA did not change with age. When nephropathy was induced, the 12-week-old group demonstrated significantly greater proteinuria, urinary TGF-beta1 excretion, and interstitial fibrosis ( P<0.05) than the 5-week-old group. Decorin and fibromodulin expression was not significantly different between the groups. We conclude that 12-week-old mice develop more severe nephropathy than the younger mice following administration of the equivalent weight-based dose of AD. Decorin and fibromodulin do not play a role in this difference.

Age Factors↗
PubMed2004

Attempted treatment of factor H deficiency by liver transplantation.

Complement factor H (FH) deficiency is one of the causes of atypical hemolytic uremic syndrome (HUS). Most patients with FH deficiency associated HUS progress to end-stage renal disease despite plasma therapy. Moreover, the disease invariably recurs in the graft kidney and causes graft failure. We confirmed FH deficiency in a 30-month-old boy with recurrent HUS of 2 years duration, and attempted an auxiliary partial orthotopic liver transplantation (APOLT) to overcome the sustained intractable dependency on plasma therapy. APOLT restored the plasma FH level, without HUS recurrence, for 7 months. However, thereafter he suffered from serious infectious complications associated with immunosuppression and finally died 11 months after APOLT. In conclusion, although APOLT showed clinical and laboratory improvement for some period in this patient, the final fatal outcome suggests that liver transplantation should be cautiously applied to patients with HUS associated with FH deficiency.

Bacterial Infections↗