• Childhood Kidney Diseases
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• v.7 no.2
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• pp.234-238
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• 2003

Fanconi syndrome is a generalized functional disorder of the proximal tubule of the kidney and is characterized by aminoaciduria, glycosuria, hyperphosphaturia, dehydration, rickets, and growth failure. Nephrocalcinosis and hypercalciuria are rare manifestations of Fanconi syndrome. There is no case report of Fanconi syndrome complicated with nephrocalcinosis and hypercalciuria in Korea. A 6-year-old boy presented with genu valgum and waddling gaits for about 3 years. There was no family history of renal disease and his physical examination was normal except for genu valgum and corrected cleft lip and palate. Laboratory investigations showed generalized aminoaciduria, glycosuria, hyperphosphaturia, hypercalciuria, and low-molecular weight proteinuria including ${\beta}$-microglobulin. Serum 25-OH vitamin $D_3$ was within the normal range, and $1,25-(OH)_2$ vitamin $D_3$ was elevated. Bilateral renal medullary hyperechogenicity was demonstrated by ultrasonography. Analysis of the CLCN5 gene revealed no mutation. Here we describe a boy with Fanconi syndrome complicated with nophrocalcinosis and discuss the differential diagnosis.

• Childhood Kidney Diseases
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• v.24 no.2
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Imaging Science in Dentistry
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• v.32 no.1
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• pp.1-10
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• 2002

Purpose: To observe the histopathological changes following irradiation on the wound healing after tooth extraction in the rachitic rats. Materials and Methods: In order to carry out this study, the rats were divided into four groups: Group 1 (normal diet/non-irradiation group), Group 2 (normal diet/irradiation group), Group 3 (rachitogenic diet/non-irradiation group), and Group 4 (rachitogenic diet/irradiation group). Rachitic changes were induced with rachitogenic diet No. 2 (high calcium, low phosphorus, and Vitamin D deficient diet) for 5 weeks. After the extraction of both maxillary first molars of the rats in Group 2 and 4, the head and neck of the rats were irradiated with single absorbed dose of 10 Gy. The rats were sacrificed at the 1st, 5th, 10th, and 15th day after tooth extraction. The specimens including the extraction wound were sectioned, stained with the hematoxylin-eosin and Masson's trichrome method and examined under the light microscope. Results: In the Group 2, the amount of newly formed bone trabeculae on the periphery of extraction socket and osteoblastic activity were reduced. In the Group 3, epithelial fusion was not revealed on the 5th day after toothe extraction and growth rate of osteoid formation was reduced. In the Group 4, necrotized tissue at the outer surface of extraction socket and destructive changes on the alveolar bones were noted on the 10th day. Epithelial fusion was not revealed and large amounts of osteoclast were noted on alveolar bone on the 15th day. Conclusion: The healing process of wound after tooth extraction was retarded by irradiation and especially in the rachitic rats.

• Pediatric Infection and Vaccine
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• v.23 no.1
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• pp.72-76
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• 2016

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.13 no.2
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• pp.185-190
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• 1991

Thr rickets or osteomalacia, that was induced by nonendocrine osseous or soft tissue tumor, is extremely rare disease and fourteen patients has been reported since 1947. The real nature of this disease is unknown, but postulated that unknown phosphaturic subtance which was elaborated from the tumor affect the renal tubule and produce hypophosphatemia and failure of calcification of osseous tissue. This case presented is that of 41-year-old man who suffered from severe generalized aching pain, severe muscular dystrophy, and shortening of the stature 4 years prior hospitalization. The causal coexisting tumor is walnut sized peripheral giant cell granuloma on the upper gingiva. After surgical removal of the tumor, patient's biochemical findings of the serum and urine were returned to the normal limits 12 days later, and clinical symptoms were marked relieved at 6 weeks later. The dental radiograms which were obtained 4 months later revealed remarkable bone regeneration and newly formed alveolar lamina dura.

• Biomedical Science Letters
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• v.19 no.4
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• pp.338-343
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• 2013

Serum levels of alkaline phosphatase (ALP) are widely used in the clinical diagnosis of hepatic diseases and the assessment of liver status. They also have epidemiological significance to be prospective risk factors for bone diseases, such as osteitis deformans, rickets, osteomalacia, hyperparathyroidism, healing fractures, and osteoblastic bone tumors. In the previous study, single nucleotide polymorphisms (SNPs) in several genes have been reported to be associated with serum levels of liver enzyme in American population. We aimed to confirm whether the genetic variation of RETNLB (resistin like beta) gene also influence the serum levels of liver enzyme in Korean population. We genotyped variants in or near RETNLB in a population-based sample including 994 Korean adults. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in RETNLB gene with serum levels of liver enzyme. By examining genotype data of a total of 944 subjects in 5 hospital health promotion centers, we discovered the RETNLB gene polymorphisms are associated with serum levels of ALP. The common and highest significant polymorphism was rs736327 (${\beta}$=8.66, P=2.37E-05), rs7639070 (${\beta}$=8.56, P=3.24E-05) with ALP in all groups. Furthermore, the ALP was consistently associated with rs736327 (${\beta}$=10.40, P=5.23E-05), rs7639070 (${\beta}$=10.32, P=6.74E-05) in the male population. Consequently, we found statistically significant SNPs in RETNLB gene that are associated with serum levels of ALP. In addition, these results suggest that the individuals with the minor alleles of the SNP in the RETNLB gene may have elevated serum levels of ALP in the Korean population.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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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).

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.48-53
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• 2013

Tyrosinemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma in childhood or early adolescence. We studied a 37-year-old woman with tyrosinemia I whose severe liver disease in infancy and rickets during childhood were resolved with dietary therapy. From 14 years of age, she resumed unrestricted diet with the continued presence of the biochemical features of tyrosinemia, yet maintained normal liver function. In adult years, she accumulated only a small amount of succinylacetone. Despite this evolution to a mild biochemical and clinical phenotype, she eventually developed hepatocellular carcinoma. Her fumarylacetoacetate hydrolase genotype consists of a splice mutation, IVS6-1G>T, and a novel missense mutation, p.Q279R. Studies of resected liver revealed the absence of hydrolytic activity and immunological expression of fumarylacetoacetate hydrolase in tumour. In the non-tumoral areas, however, 53% of normal hydrolytic activity and immunologically present fumarylacetoacetate hydrolase were found. This case demonstrates the high risk of liver cancer in tyrosinemia I even in a seemingly favorable biological environment. In this study of tyrosinemia I, Case 2 with negative succinylacetone accumulation and the recovery of acute liver failure was compared with Case 1. Diet restriction and NTBC treatment are crucial to prevent hepatocellular carcinoma until liver transplant can take place and cure the condition. Further studies are needed to examine cases where liver cancer did not result despite clinical symptoms/signs of tyrosinemia type I.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.99-103
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• 2012

Tyrosinemia type I is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation. Clinical symptoms include progressive liver damage with liver failure, coagulopathy, hypophosphataemic rickets, renal tubular dysfunction and a high risk of hepatocellular carcinoma. If left untreated, the affected infants may die from liver failure within the first year of life. PharmacoloIcal therapy with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has offered an effective therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. As prognosis of tyrosinemia type I is improving with early diagnosis and early treatments, it meets the criteria for a condition that would benefit from newborn screening. We report a case of tyrosinemia type I diagnosed by newborn screening and successive biochemical analysis of plasma and urine, treated by dietary restriction and NTBC.

• Journal of Dairy Science and Biotechnology
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• v.34 no.3
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• pp.145-155
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• 2016

Cow's milk and dairy products are elements of the human diet that could play an important role in improving human health. The macronutrients and micronutrients found in milk could supply the nutrients required to maintain human health. Among them, milk-derived bioactive peptides have been identified as potential ingredients found in health promoting functional foods. These bioactive peptides target diet-related chronic diseases, particularly non-communicable ones such as cardiovascular disease, diabetes and obesity. Additionally probiotics such as lactic acid bacteria (LAB) are can be considered live microorganisms that confer health benefits for the host-, when administered in adequate amounts. Further, the calcium, vitamin D, and protein content of milk and dairy products could play a role in proving bone health. The effect of milk and calcium on bone mineral density could prevent against fracture, osteoporosis and rickets. Furthermore, milk and dairy products also contain which factors that, which protect against dental caries (anti-cariogenic properties). This paper reviews the various nutritional functions of milk and dairy products in improving human health.