Clinical Pediatric Endocrinology最新文献

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Long-term care, from neonatal period to adulthood, of children born small for gestational age. 从新生儿期到成年期对小于胎龄出生的儿童的长期护理
IF 1
Clinical Pediatric Endocrinology Pub Date : 2019-01-01 Epub Date: 2019-10-19 DOI: 10.1297/cpe.28.97
Il Tae Hwang
{"title":"Long-term care, from neonatal period to adulthood, of children born small for gestational age.","authors":"Il Tae Hwang","doi":"10.1297/cpe.28.97","DOIUrl":"10.1297/cpe.28.97","url":null,"abstract":"<p><p>Children born small for gestational age (SGA) face an increased risk of health problems in later life, particularly persistent short stature, neurocognitive dysfunction, impaired renal and pulmonary function, decreased bone density, sensorineural hearing loss, premature adrenarche, and metabolic syndrome. Insulin resistance appears to be a key component underlying these metabolic complications. Long-term, continuous, GH treatments in short children born SGA lead to a normalization of height through childhood to adulthood. Recombinant human GH has been proven to be relatively safe. We recommend early surveillance in a growth clinic for children born SGA without catch-up growth. Obesity, insulin resistance, and the risk of metabolic syndrome increase with catch-up growth, but short stature and cognitive dysfunction increase without catch-up growth in children born SGA. A solution to this catch-up dilemma is breast feeding for a minimum of 6 to 12 mo. Because the overall prevalence of metabolic risk factors is very low, routine evaluation of metabolic parameters is not recommended for all children born SGA, but it may be useful to consider metabolic evaluations in overweight or obese children born SGA. Since children born SGA have many risk factors, long-term management from neonate to adulthood is very important.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"28 1","pages":"97-103"},"PeriodicalIF":1.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44583734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of antenatal synthetic glucocorticoid administration on pyramidal cell morphology and microtubule-associated protein type 2 (MAP2) in rat cerebrocortical neurons. 产前给药合成糖皮质激素对大鼠脑皮质神经元锥体细胞形态和微管相关蛋白2型(MAP2)的影响
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2017-01-01 Epub Date: 2017-01-31 DOI: 10.1297/cpe.26.9
Rodrigo Pascual, Isabel Cuevas, Odra Santander, Martina Valencia
{"title":"Influence of antenatal synthetic glucocorticoid administration on pyramidal cell morphology and microtubule-associated protein type 2 (MAP2) in rat cerebrocortical neurons.","authors":"Rodrigo Pascual, Isabel Cuevas, Odra Santander, Martina Valencia","doi":"10.1297/cpe.26.9","DOIUrl":"10.1297/cpe.26.9","url":null,"abstract":"<p><p>Previous animal studies have indicated that excessive prenatal circulating glucocorticoid (GC) levels induced by the antenatal administration of synthetic GC (sGC) significantly alter neuronal development in the cerebellar and hippocampal neurons of the offspring. However, it is unknown whether antenatal sGC administration results in long-term neocortical pyramidal cell impairment. In the current study, we examined whether an equivalent therapeutic dose of antenatal betamethasone phosphate (BET) in pregnant rats alters the Golgi-stained basilar dendritic length and histochemical expression of dendritic microtubule-associated protein 2 (MAP2) of neocortical pyramidal cells in infant, adolescent, and young adult offspring. The results obtained showed that <i>in utero</i> BET exposure resulted in a significant reduction in the basilar dendritic length per neuron and a transient reduction in histochemical MAP2 immunoreactivity. Consistent with previous hippocampal and cerebellar data, the present findings suggest that prenatal BET administration alters the dendritic growth of cerebrocortical pyramidal cells.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"26 1","pages":"9-15"},"PeriodicalIF":1.4,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44927301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relationship between dose of antithyroid drugs and adverse events in pediatric patients with Graves’ disease 小儿Graves病患者抗甲状腺药物剂量与不良事件的关系
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2017-01-01 DOI: 10.1297/cpe.26.1
Kie Yasuda, Y. Miyoshi, Makiko Tachibana, N. Namba, K. Miki, Y. Nakata, T. Takano, K. Ozono
{"title":"Relationship between dose of antithyroid drugs and adverse events in pediatric patients with Graves’ disease","authors":"Kie Yasuda, Y. Miyoshi, Makiko Tachibana, N. Namba, K. Miki, Y. Nakata, T. Takano, K. Ozono","doi":"10.1297/cpe.26.1","DOIUrl":"https://doi.org/10.1297/cpe.26.1","url":null,"abstract":"Abstract. Graves’ disease (GD) accounts for a large proportion of pediatric hyperthyroidism, and the first-line treatment is antithyroid drug (ATD) therapy. Methimazole (MMI) is effective in most patients but is associated with significant adverse events (AEs). We reviewed the medical records of GD patients (n = 56) with onset age of <15 yr and investigated the relationship between MMI dose and AEs. The study population comprised 11 male and 45 female patients and the median age at diagnosis was 11 yr. All patients were initially treated with ATDs. Among the 52 patients initially treated with MMI, 20 received a low dose, and 32 received a high dose of MMI (< 0.7 vs ≥ 0.7 mg/kg/day, respectively). AEs occurred in 20% of the patients in the low-dose MMI group, and in 50% patients in the high-dose MMI group (p = 0.031). A greater variety of AEs was observed in the high-dose group. Neutropenia and rash were observed in both groups. With treatment transition to low-dose MMI according to the Japanese Society for Pediatric Endocrinology guidelines, we expect a decrease in the incidence of AEs in future. However, we should be careful as neutropenia and rash can occur independently of the MMI dose.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"26 1","pages":"1 - 7"},"PeriodicalIF":1.4,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.26.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42852583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 15
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe 一例由ABCG5复合杂合突变引起的谷甾醇血症:colestimide和依折麦布的临床特征和治疗结果
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2017-01-01 DOI: 10.1297/cpe.26.17
Sahoko Ono, J. Matsuda, Aki Saito, Takenobu Yamamoto, W. Fujimoto, Hitomi Shimizu, S. Dateki, K. Ouchi
{"title":"A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe","authors":"Sahoko Ono, J. Matsuda, Aki Saito, Takenobu Yamamoto, W. Fujimoto, Hitomi Shimizu, S. Dateki, K. Ouchi","doi":"10.1297/cpe.26.17","DOIUrl":"https://doi.org/10.1297/cpe.26.17","url":null,"abstract":"Abstract. Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the “ATP-binding cassette, subfamily G” member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24.6 mg/dL, campesterol: 19.2 mg/dL, stigmasterol: 1.8 mg/dL). Compound heterozygous mutations (p.R419H and p.R389H) were identified in ABCG5. The patient was placed on a low cholesterol/low plant sterol diet and treated with colestimide (a bile acid sequestrant) and ezetimibe (an NPC1L1 inhibitor). Serum T-Chol and LDL-C levels decreased to normal within 2 mo, and plant sterol levels decreased by 30% within 4 mo. The xanthomas regressed gradually, and almost completely disappeared after 1.5 yr of treatment. No further reductions of plant sterol levels were observed. Long-term follow-up is important to verify appropriate therapeutic goals to prevent premature atherosclerosis and coronary artery disease.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"26 1","pages":"17 - 23"},"PeriodicalIF":1.4,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.26.17","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41326067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 13
A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1 一种新的MEN1突变在日本青少年多发性内分泌肿瘤1型
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2017-01-01 DOI: 10.1297/cpe.26.25
M. Itoh, Y. Saikawa
{"title":"A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1","authors":"M. Itoh, Y. Saikawa","doi":"10.1297/cpe.26.25","DOIUrl":"https://doi.org/10.1297/cpe.26.25","url":null,"abstract":"Multiple endocrine neoplasia type 1 (MEN1; OMIM 131100) is an autosomal-dominant hereditary endocrine tumor syndrome. It is characterized by the combined development of anterior pituitary adenomas, adenomas or hyperplasia of the parathyroid glands, and gastroenteropancreatic neuroendocrine tumors (GEPNETs) in a single patient. Germline mutations in the menin gene (MEN1) account for the development of MEN1, and most of the MEN1 mutations are inactivating, which is consistent with the tumor-suppressing role of menin. More than 1000 different germline MEN1 mutations have been reported throughout the entire length of the coding and noncoding regions without significant clustering. Of all mutations, approximately 23% are nonsense mutations, 41% are frameshift deletions or insertions, 6% are in-frame deletions or insertions, 9% are splice-site mutations, and 20% are missense mutations (1). We describe herein a Japanese adolescent with MEN1 carrying a newly identified heterozygous missense mutation (p.Gly42Val) in MEN1.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"26 1","pages":"25 - 28"},"PeriodicalIF":1.4,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41930304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Longitudinal observation of serum anti-Müllerian hormone in three girls after cancer treatment 3例女孩肿瘤治疗后血清抗<s:1>勒氏激素的纵向观察
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2016-10-01 DOI: 10.1297/cpe.25.119
Y. Miyoshi, Kie Yasuda, Makiko Tachibana, H. Yoshida, E. Miyashita, T. Miyamura, Y. Hashii, Kae Hashimoto, T. Kimura, K. Ozono
{"title":"Longitudinal observation of serum anti-Müllerian hormone in three girls after cancer treatment","authors":"Y. Miyoshi, Kie Yasuda, Makiko Tachibana, H. Yoshida, E. Miyashita, T. Miyamura, Y. Hashii, Kae Hashimoto, T. Kimura, K. Ozono","doi":"10.1297/cpe.25.119","DOIUrl":"https://doi.org/10.1297/cpe.25.119","url":null,"abstract":"Abstract. Gonadal dysfunction and infertility are major endocrinological late effects among childhood cancer survivors. Chemotherapy and radiation have gonadotoxic effects and diminish the ovarian reserve. The serum concentration of anti-Müllerian hormone (AMH) is a useful marker of ovarian reserve in survivors. We conducted a longitudinal study to investigate the variations of AMH in evaluating the acute and chronic effects of cancer therapy on the ovary. Three young female patients with different hematological diseases were registered, and their medical records were reviewed. Patient 1 with myelodysplastic syndrome received reduced-intensity hematopoietic stem cell transplantation (HSCT) at 10 yr of age. Breast development and menarche occurred spontaneously after HSCT; however, AMH level became undetectable and gonadotropin did not increase. Patient 2 with acute lymphoblastic leukemia had been receiving chemotherapy since 11 yr of age. AMH level became undetectable but increased after chemotherapy and was associated with regular menstruation. Patient 3 with acute myeloid leukemia received chemotherapy at 13 yr of age and myeloablative HSCT at 14 yr of age. AMH level became undetectable after HSCT, and the patient developed amenorrhea. These different patterns in the recovery phase demonstrated that the AMH level immediately after the end of cancer therapy is inappropriate for the evaluation of the ovarian reserve.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"25 1","pages":"119 - 126"},"PeriodicalIF":1.4,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.25.119","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation 假性醛固酮减少症II型合并先天性垂体功能减退症患者携带KLHL3突变
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2016-10-01 DOI: 10.1297/cpe.25.127
M. Mitani, Munehiro Furuichi, S. Narumi, T. Hasegawa, Motoko Chiga, S. Uchida, Seiji Sato
{"title":"A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation","authors":"M. Mitani, Munehiro Furuichi, S. Narumi, T. Hasegawa, Motoko Chiga, S. Uchida, Seiji Sato","doi":"10.1297/cpe.25.127","DOIUrl":"https://doi.org/10.1297/cpe.25.127","url":null,"abstract":"Abstract. Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygous KLHL3 mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"25 1","pages":"127 - 134"},"PeriodicalIF":1.4,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.25.127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66288141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1 日本常染色体显性假醛固酮减少症1型家族中人类矿皮质激素受体基因的新突变
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2016-10-01 DOI: 10.1297/cpe.25.135
Y. Nishizaki, M. Hiura, H. Sato, Yohei Ogawa, A. Saitoh, K. Nagasaki
{"title":"A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1","authors":"Y. Nishizaki, M. Hiura, H. Sato, Yohei Ogawa, A. Saitoh, K. Nagasaki","doi":"10.1297/cpe.25.135","DOIUrl":"https://doi.org/10.1297/cpe.25.135","url":null,"abstract":"Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that manifests in infancy with hyponatremia, hyperkalemia, and metabolic acidosis, regardless of renin-angiotensin system (RAS) hyperactivity. PHA1 has autosomal recessive systemic and autosomal dominant renal forms. The systemic form of PHA1 is characterized by severe resistance to aldosterone in multiple organs, including the kidney, colon, sweat and salivary glands, and lung. Patients with renal PHA1 are treated with supplemental oral salt, and they typically show gradual clinical improvement with regard to renal salt loss during childhood. Usually, sodium supplementation becomes unnecessary at one to three years of age (1). Systemic PHA1 is caused by mutations in the amiloride-sensitive luminal sodium channel (ENaC) gene, the protein product of which is responsible for sodium reabsorption. In contrast, in the renal PHA1 form, aldosterone resistance is present only in the kidney. Renal PHA1 results in renal salt loss and failure to thrive during infancy. It is caused by mutations in NR3C2, which encodes the MR. NR3C2 consists of 10 exons; however, the first two (1α and 1β) are not translated. Translation starts from exon 2, which encodes the N-terminal domain (N-ter). Exons 3 and 4 encode the DNA-binding domain (DBD), whereas exons 5-9 encode the C-terminal ligand-binding domain (LBD). In 1998, Geller et al. identified four mutations in human NR3C2: two frameshift mutations and one nonsense mutation in exon 2, and one splicing mutation in intron 5 (2). To date, more than 100 mutations associated with PHA1 have been described (3–8), and several mutations have been identified in the LBD domain. Herein we report a novel mutation in NR3C2 in a Japanese family with renal PHA1. The results provide further information on the clinical consequences of NR3C2 mutations. Received: February 13, 2016 Accepted: July 1, 2016 Corresponding author: Dr. Keisuke Nagasaki, Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chuo-Ku, Niigata city, Niigata 951-8510, Japan E-mail: nagasaki@med.niigata-u.ac.jp","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"25 1","pages":"135 - 138"},"PeriodicalIF":1.4,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.25.135","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66288311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
A case of transient neonatal diabetes due to a novel mutation in ABCC8 ABCC8基因突变引起的新生儿短暂性糖尿病1例
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2016-10-01 DOI: 10.1297/cpe.25.139
M. Takagi, Ryojun Takeda, H. Yagi, D. Ariyasu, R. Fukuzawa, T. Hasegawa
{"title":"A case of transient neonatal diabetes due to a novel mutation in ABCC8","authors":"M. Takagi, Ryojun Takeda, H. Yagi, D. Ariyasu, R. Fukuzawa, T. Hasegawa","doi":"10.1297/cpe.25.139","DOIUrl":"https://doi.org/10.1297/cpe.25.139","url":null,"abstract":"Neonatal diabetes mellitus (NDM), characterized by hyperglycemia and the need for insulin treatment within the first 6 mo of life, is a rare monogenic form of diabetes with an estimated incidence of 1 in 90,000 neonates (1). Approximately half of NDM cases are transient and resolve at a median age of 3 mo (transient NMD: TNDM), while the remaining cases develop into a permanent form of diabetes (permanent NDM: PNDM; MIM # 606176). Adult onset non-autoimmune diabetes occurs in a significant number of patients with TNDM (2). \u0000 \u0000Most cases of TNDM (approximately 70%) are caused by abnormalities in chromosome 6q24, including paternal duplications, paternal uniparental isodisomy, and loss of methylation. In a few patients, activating mutations in the genes, which encode the two subunits of the β-cell ATP-sensitive potassium channel, i.e. ABCC8 and KCNJ11, have been reported to be associated with TNDM. Interestingly, recent studies have shown that familial analysis of TNMD with ABCC8 mutations revealed that their family members with adult onset non-autoimmune diabetes also have the same mutations (3). Here, we present a Japanese case with TNDM harboring a novel p.Glu350Asp mutation in ABCC8. Familial analysis revealed that his non-symptomatic sister and mother, other family members with adult-onset diabetes without neonatal episodes of hyperglycemia, also possessed the same mutation.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"25 1","pages":"139 - 141"},"PeriodicalIF":1.4,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.25.139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66288369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Current concepts in perinatal mineral metabolism 围产期矿物质代谢的最新概念
IF 1.4
Clinical Pediatric Endocrinology Pub Date : 2016-01-01 DOI: 10.1297/cpe.25.9
Y. Ohata, K. Ozono, T. Michigami
{"title":"Current concepts in perinatal mineral metabolism","authors":"Y. Ohata, K. Ozono, T. Michigami","doi":"10.1297/cpe.25.9","DOIUrl":"https://doi.org/10.1297/cpe.25.9","url":null,"abstract":"Abstract. The serum levels of calcium (Ca) and phosphate are maintained higher in the fetus than in the pregnant mother, especially in late gestation, to meet the demands of fetal bone development. In order to maintain this fetal stage-specific mineral homeostasis, the placenta plays a critical role through active transcellular mineral transport. Although the molecular mechanism of transplacental Ca transport has been well studied, little is known about the transport mechanism of phosphate and magnesium. Maternal mineral homeostasis is also altered during pregnancy to supply minerals to the fetus. In the lactating mother, osteocytic osteolysis is suggested to be involved in the supply of minerals to the baby. The levels of some calcitropic and phosphotropic (Ca- and phosphate-regulating, respectively) hormones in the fetus are also different from those in the adult. The PTH level in the fetus is lower than that in the mother and nonpregnant adult. It is suggested, however, that low fetal PTH plays an important role in fetal mineral metabolism. The concentration of PTHrP in the fetus is much higher than that of PTH and plays a critical role in perinatal Ca homeostasis. Uncovering the molecular mechanisms for fetal stage-specific mineral metabolism will lead to better management of perinatal patients with mineral abnormalities.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"25 1","pages":"9 - 17"},"PeriodicalIF":1.4,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.25.9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66288385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
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