• Childhood Kidney Diseases
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• 제7권2호
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• pp.234-238
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• 2003

저자들은 3년 전부터 외반슬과 동요성 보행을 보인 6세 남아에서 특발성 Fanconi 증후군에 동반된 신석회화증의 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Childhood Kidney Diseases
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• 제2권1호
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• pp.82-85
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• 1998

Fanconi syndrome is a renal disorder characterized by a generalized dysfuntion of the proximal tubule leading to excessive urinary losses of amino acids, glucose, phosphate, and bicarbonate. It is often associated with hypokalemia, hypophosphatemia, rickets, and osteomalacia. We have experienced one case of primary Fanconi syndrome. The patient was a 10 year old boy and his chief complaints were short stature, glycosuria, and genu valgum. There were aminoaciduria, hypokalemia, glycosuria, decreased TRP, and hypophosphaturia. We report a case of primary Fanconi syndrome with brief review of the literature.

• 대한전해질대사연구회지
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• 제16권2호
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• pp.19-22
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• 2018

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, $53mL/min/1.73m^2$). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.

• 대한유전성대사질환학회지
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• 제1권1호
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• pp.23-27
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• 2001

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in the GLUT 2 gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine, and kidney. This disease is characterized by hepatorenal glycogen accumulation, both fasting hypoglycemia as well as postprandial hyperglycemia and hyperglactosemia, and generalized proximal renal tubular dysfunctions. We report the first Korean patient with FBS diagnosed based on clinical manifestations and identification of a novel mutation in the GLUT 2 gene. She was initially diagnosed having a neonatal diabetes mellitus due to hyperglycemia and glycosuria at 3 days after birth. In addition, newborn screening for galactosemia revealed hypergalactosemia. Thereafter, she has been managed with lactose free milk, insulin therapy. However, she failed to grow and her liver has been progressively enlarging. Her liver functions were progressively deteriorated with increased prothrombin time. Liver biopsy done at age 9 months indicated micronodular cirrhosis with marked fatty changes. She succubmed to hepatic failiure with pneumonia at 10 months of age. Laboratory tests indicated she had generalized proximal renal tubular dysfuctions; renal tubular acidosis, hypophosphatemic rickets, and generalized aminoaciduria. Given aforementioned findings, the diagnosis of FBS was appreciated at age of 2 months. The DNA sequencing analysis of the GLUT 2 gene using her genomic DNA showed a novel mutation at 5th codon; Lysine5 Stop (K5X).

• Clinical and Experimental Pediatrics
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• 제57권8호
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• pp.337-344
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• 2014

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs and their pathways: genes involved in ribosome biogenesis, such as those associated with Diamond-Blackfan anemia and Shwachman-Diamond syndrome; genes involved in telomere maintenance, such as dyskeratosis congenita genes; genes encoding neutrophil elastase or neutrophil adhesion and mobility associated with severe congenital neutropenia; and genes involved in DNA recombination repair, such as those associated with Fanconi anemia. Early and adequate genetic diagnosis is required for proper management and follow-up in clinical practice. Recent advances using new molecular technologies, including next generation sequencing (NGS), have helped identify new candidate genes associated with the development of bone marrow failure. Targeted NGS using panels of large numbers of genes is rapidly gaining potential for use as a cost-effective diagnostic tool for the identification of mutations in newly diagnosed patients. In this review, we have described recent insights into IBMFS and how they are advancing our understanding of the disease's pathophysiology; we have also discussed the possible implications they will have in clinical practice for Korean patients.

• Molecules and Cells
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• 제38권8호
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• pp.669-676
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• 2015

Genome instability, primarily caused by faulty DNA repair mechanisms, drives tumorigenesis. Therapeutic interventions that exploit deregulated DNA repair in cancer have made considerable progress by targeting tumor-specific alterations of DNA repair factors, which either induces synthetic lethality or augments the efficacy of conventional chemotherapy and radiotherapy. The study of Fanconianemia (FA), a rare inherited blood disorder and cancer predisposition syndrome, has been instrumental in understanding the extent to which DNA repair defects contribute to tumorigenesis. The FA pathway functions to resolve blocked replication forks in response to DNA interstrand cross-links (ICLs), and accumulating knowledge of its activation by the ubiquitin-mediated signaling pathway has provided promising therapeutic opportunities for cancer treatment. Here, we discuss recent advances in our understanding of FA pathway regulation and its potential application for designing tailored therapeutics that take advantage of deregulated DNA ICL repair in cancer.

• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.615-619
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• 2003

시스틴증은 상염색체 열성으로 발생하는 매우 드문 용해소체 축적병으로서, 용해소체 막을 통한 시스틴 운반의 장애로 발생한다. 용해소체 내 시스틴의 축적과 결정화에 의해 전신의 여러 조직에 파괴가 진행되어 성장 장애, Fanconi 증후군, 신부전, 눈의 이상, 내분비 질환 등이 나타난다. 치료제인 cysteamine의 투여가 예후를 향상시킬 수 있으므로 조기 진단과 치료가 중요하다. 저자들은 성장 장애를 주소로 내원한 12세 남아에서 slit-lamp 검사와 혈액 백혈구 시스틴 농도 측정을 통하여 시스틴증을 확진하고 cysteamine 치료를 시행하면서 추적 관찰 중이다.

• 한국임상수의학회지
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• 제22권4호
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• pp.420-423
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• 2005

A 2-year-old 16-kg, intact female lindo was presented with weight loss and poor hair coat. Abnormal serum biochemical values included mild hypokalemia (3.9 mmol/L, reference range 4.37 to 5.35 mmol/L) and mild hyperglycemia (124 mg/dl, reference range 65 to 118 mg/dl). in the complete blood count and diagnostic imaging examination, abnormal changes wer not seen. The analysis of urine sample obtained from cystocentesis revealed glucosuria (> 100 mg/dl) and mild proteinuria. Repeated analysis after admission showed persistent glucosuria and hypokalemia. But blood glucose values did not exceed the renal threshold fur glucose reabsorption. To differentiate cause of the glucosuria, the glucose tolerance test and the low-dosage dexamethasone suppression test were indicated. Results of both tests were normal. In addition, the serum total thyroxine $(T_4)$ value was within normal range. The arterial blood gas analysis showed no remarkable changes. The fractional reabsorption rates of amino acids and phosphorus were calculated above $97\%$. Based on these findings, the dog was diagnosed as renal glucosuria due to proximal renal tubular dysfunction. But this persistent renal glucosuria with hypokalemia may be the initial sign of Fanconi's syndrome or proximal renal tubular acidosis.

• 대한유전성대사질환학회지
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• 제4권1호
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• pp.23-29
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• 2004

시스틴증은 상염색체 열성으로 발생하는 매우 드문 용해소체 축적병으로서, 용해소체 막을 통한 시스틴 운반의 장애로 발생한다. 용해소체 내 시스틴의 축척과 결정화에 의해 전신의 여러 조직에 파괴가 진행되어 성장 장애, Fanconi 증후군, 신부전, 눈의 이상, 내분비 질환 등이 나타난다. 치료제인 cysteamine의 투여가 예후를 향상시킬 수 있으므로 조기 진단과 치료가 중요하다. 저자들은 성장 장애를 주소로 내원한 12세 남아에서 slit-lamp 검사와 혈액 백혈구 시스틴 농도 측정을 통하여 시스틴증을 확진하고 cysteamine 치료를 시행하면서 추적 관찰 중이다.

• 대한유전성대사질환학회지
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• 제23권1호
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• pp.12-16
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• 2023

Patients with inborn metabolic disorder (IMD) show multisystemic manifestations. Heterogenous renal manifestations can develop in IMD patients as well. In this review, the major renal manifestations of IMD and their representative IMDs are described. The major renal manifestations include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and glomerulopathy, and diverse types of IMDs such as carbohydrate metabolism disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders present renal manifestations. Therefore, general and regular renal function evaluation is recommended in addition to specific investigation according to IMD phenotypes.