• Neonatal Medicine
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• 제28권1호
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• pp.41-47
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• 2021

Neonatal diabetes mellitus can be categorized as transient, permanent, or syndromic, and approximately half of the cases are transient. We present a case involving a term newborn who showed overt progression of transient neonatal diabetes mellitus, with complete remission within 6 months. On the second day of life, the patient presented with tachypnea, hyperglycemia, and decreased serum levels of C-peptide and insulin. Continuous subcutaneous infusion of insulin and continuous glucose monitoring were well tolerated. The patient showed a normal growth pattern, with no hyperglycemic or hypoglycemic episodes at 6 months of age. As it is rare and often asymptomatic, hyperglycemia may be attributed to various factors, including intrauterine environment, perinatal stress, and diverse genetic background. Therefore, consistent blood glucose monitoring and prompt early insulin therapy are crucial for any term newborns with persistent hyperglycemia, to prevent further diabetic complications. Moreover, continuous subcutaneous insulin infusion and the utilization of continuous glucose monitoring devices are the most effective and practical management strategies.

• Clinical and Experimental Pediatrics
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• 제54권4호
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• pp.179-182
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• 2011

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM. Herein, we present the case of a male child with TNDM whose mutational analysis revealed a heterozygous c.3547C>T substitution in the ABCC8 gene, leading to an Arg1183Trp mutation in the SUR1 protein. The parents were clinically unaffected and did not show a mutation in the ABCC8 gene. This is the first case of a de novo ABCC8 gene mutation in a Korean patient with TNDM. The patient was initially treated with insulin and successfully switched to sulfonylurea therapy at 14 months of age. Remission of diabetes had occurred at the age of 16 months. Currently, the patient is 21 months old and is euglycemic without any insulin or oral hypoglycemic agents. His growth and physical development are normal, and there are no delays in achieving neurological and developmental milestones.

• 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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• 제53권3호
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• pp.432-436
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• 2010

일과성 신생아 당뇨병은 6번 염색체의 부친 이체성, 부친으로부터 유래한 염색체 6q24의 중복, ZAC 또는 HYMAI 유전자의 CpG 섬의 메틸화 결함에 의해 야기된다. 저자들은 고혈당, 거설증, 자궁내성장지연으로 발현되어 부친으로부터 유래된 HYMA1 유전자만을 보인 일과성 신생아 당뇨병 1례를 경험하였다. 생후 18일된 여아가 거설증과 반복되는 고혈당으로 입원하였다. 거설증과 함께 큰 대천문, 작은 턱, 두드러진 눈을 보였으며 혈중 포도당 농도는 200-300 mg/dL로 유지되다가 입원 2일 후부터 인슐린 투여 없이도 정상 범위로 유지되었다. 모체로부터 유래된 메틸화된 대립유전자 유무를 확인하기 위하여 말초 혈액으로부터 genomic DNA를 추출하여 bisulfite를 처리한 후, 메틸화 특이 중합 효소 연쇄 반응으로 HYMAI 유전자의 일부분을 증폭시키고, 제한 효소 BssHII를 이용한 제한 효소 절편 길이 다형성 (restriction fragment length polymorphism, RFLP) 분석을 이용하여 HYMAI 유전자의 메틸화 여부를 확인한 결과, HYMAI 유전자의 메틸화 결함을 보여 부친에서 유래된 HYMAI 유전자만을 갖고 있음을 확인하였다. HYMAI 유전자의 메틸화 검사를 통해 6번 염색체의 각인된 유전자가 증명되었으며 메틸화 결함으로 인해 일과성 신생아 당뇨병이 발생하였다.

• Asian-Australasian Journal of Animal Sciences
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• 제19권9호
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• pp.1257-1261
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• 2006

Pleiomorphic adenoma gene-like1 (PLAGL1) encodes a zinc-finger (ZF) protein with seven ZFs of the C2H2-type which is a regulator of apoptosis and cell cycle arrest, and also regulates the secretion of insulin. In both human and mouse, PLAGL1 is a candidate gene for tumor suppressor and transient neonatal diabetes mellitus (TNDM). In this study, a 2,238 bp fragment covering the complete coding region was obtained and deposited to GenBank (accession number: DQ288899). The reverse transcriptase-polymerase chain reaction (RT-PCR) indicated that PLAGL1 was expressed almost equally in heart, liver, spleen, lung, kidney, stomach, small intestine, skeletal muscle, fat, uterus and ovary. Comparing the sequences of Large White and Meishan pigs, a C-T transition in exon 6 was found. The polymorphism could be detected by TaqI and was genotyped in five purebreds (Large White, Landrace, Meishan, Tongcheng and Bamei). Association analysis was performed between the polymorphism and carcass traits in 276 pigs of a "Large White${\times}$Meishan" F2 resource population. As a consequence, significant associations of the genotypes with shoulder backfat thickness (SFT) and internal fat rate (IFR) were observed. Pigs with TT genotype had low SFT and high IFR compared with TC or CC genotypes.