Clinical Pediatric Endocrinology最新文献_第9页

Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report 口服去氨加压素崩解片治疗AVPR2突变部分先天性肾源性尿崩症1例疗效观察

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-02-18 DOI: 10.1297/cpe.2021-0032

K. Ikegawa, R. Hachiya, K. Akiba, Y. Hasegawa

{"title":"Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report","authors":"K. Ikegawa, R. Hachiya, K. Akiba, Y. Hasegawa","doi":"10.1297/cpe.2021-0032","DOIUrl":"https://doi.org/10.1297/cpe.2021-0032","url":null,"abstract":"Abstract. Congenital nephrogenic diabetes insipidus (NDI) is a rare disease that causes polydipsia and polyuria, and there are currently no effective treatments for most cases, particularly severe ones. The present report describes the case of a 1-yr-5-mo-old male patient with partial congenital NDI who was successfully treated with oral disintegrating 1-deamino-8-D-arginine vasopressin (DDAVP). The patient presented with poor weight gain and polydipsia (fluid, 1.5 L/d) and received a diagnosis of NDI after genetic analysis revealed an AVPR2 mutation (c.383A>C, p.Y128S). His water-restricted urine osmolality increased from 360 mOsm/kg/H2O to 667 mOsm/kg/H2O after subcutaneous AVP injection, indicating that he had some urine concentrating ability. Oral disintegrating DDAVP therapy was started at 360 µg/d with hydrochlorothiazide and increased to 720 µg/d without any adverse effects. A 30% decrease in urine output and water intake was followed by an increase in body weight. The present study is the first to report the effectiveness and safety of oral disintegrating DDAVP in a patient with partial congenital NDI due to an AVPR2 gene mutation. The severity of NDI at which DDAVP therapy is the most effective remains to be determined.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 1","pages":"87 - 92"},"PeriodicalIF":1.4,"publicationDate":"2022-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48807134","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: 0

Severe hypernatremia in soft drink ketoacidosis and hyperglycemic hyperosmolar state at the onset of type 2 diabetes mellitus: a case series of three adolescents 2型糖尿病发病时伴有软饮料酮症酸中毒和高血糖高渗状态的严重高钠血症:3例青少年病例系列

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-02-16 DOI: 10.1297/cpe.2021-0075

Soo Jeong Choo, Hyun Gyung Lee, C. Kim, E. Yang

{"title":"Severe hypernatremia in soft drink ketoacidosis and hyperglycemic hyperosmolar state at the onset of type 2 diabetes mellitus: a case series of three adolescents","authors":"Soo Jeong Choo, Hyun Gyung Lee, C. Kim, E. Yang","doi":"10.1297/cpe.2021-0075","DOIUrl":"https://doi.org/10.1297/cpe.2021-0075","url":null,"abstract":"Abstract. Diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar state (HHS) are diabetic emergencies. Some patients with a hyperglycemic crisis can present with an overlap of DKA and HHS. The coexistence of DKA and HHS is associated with higher mortality than in isolated DKA and HHS. In addition, electrolyte derangements caused by global electrolyte imbalance are associated with potentially life-threatening complications. Here, we describe three cases of mixed DKA and HHS with severe hypernatremia at the onset of type 2 diabetes mellitus. All patients had extreme hyperglycemia and hyperosmolarity with acidosis at the onset of diabetes mellitus. They consumed 2 to 3 L/d of high-carbohydrate drinks prior to admission to relieve thirst. They showed severe hypernatremia with renal impairment. Two patients recovered completely without any complications, while one died. Severe hypernatremia with mixed DKA and HHS is rare. However, it may be associated with excess carbohydrate beverage consumption. Reduced physical activity during the COVID19 pandemic and unhealthy eating behaviors worsened the initial presentation of diabetes mellitus. We highlight the impact of lifestyle factors on mixed DKA and HHS.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 1","pages":"81 - 86"},"PeriodicalIF":1.4,"publicationDate":"2022-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49191620","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

Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations IGF-1受体(IGF1R)杂合突变导致的各种矮小表型

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-02-07 DOI: 10.1297/cpe.2021-0064

Yuki Kawashima-Sonoyama, T. Hotsubo, T. Hamajima, N. Hamajima, M. Fujimoto, N. Namba, S. Kanzaki

{"title":"Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations","authors":"Yuki Kawashima-Sonoyama, T. Hotsubo, T. Hamajima, N. Hamajima, M. Fujimoto, N. Namba, S. Kanzaki","doi":"10.1297/cpe.2021-0064","DOIUrl":"https://doi.org/10.1297/cpe.2021-0064","url":null,"abstract":"Abstract. Type 1 insulin-like growth factor receptor (IGF1R) plays an important role in normal fetal and postnatal growth. Over 30 pathogenic variants of IGF1R have been identified in patients with short stature. Yet, 20 years after the first report, a variety of phenotypes remain poorly defined. We analyzed the genetic and clinical data and responses to GH therapy in 11 patients using results from questionnaires. Eight of the 11 patients have already been reported in previous articles, and all of the identified mutations were heterozygous. The patients exhibited various phenotypes. At least two patients did not meet the criteria for GH treatment for small for gestational age (SGA) short stature, and two more patients showed lower serum IGF1 levels. Nine of the 11 patients had thin upper lips. Five patients with heterozygous IGF1R treated with GH exhibited similar height gains to those reported in previous Japanese studies on SGA short stature, which also led to extremely high serum IGF1 levels. Patients with short stature due to IGF1R mutations exhibit various phenotypes. Their presentation at diagnosis may be indistinguishable from common short stature. More specific clinical scoring that considers elevated IGF1 levels after GH treatment is needed to better detect IGF1R mutations.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 1","pages":"59 - 67"},"PeriodicalIF":1.4,"publicationDate":"2022-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41732566","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: 0

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism 免疫球蛋白超家族1（IGSF1）的一种新的无义变体（p.Arg1293Ter）与先天性促性腺功能减退症和中枢性甲状腺功能减退症有关

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-14 DOI: 10.1297/cpe.2021-0071

T. Tajima, Makiko Oguma

引用次数: 1

Does COVID-19 predispose patients to type 1 diabetes mellitus? COVID-19是否使患者易患1型糖尿病?

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2021-11-01 DOI: 10.1297/cpe.2021-0050

Aysun Ata, Arzu Jalilova, Tarık Kırkgöz, Hafize Işıklar, Günay Demir, Yasemin Atik Altınok, Behzat Özkan, Ayşin Zeytinlioğlu, Şükran Darcan, Samim Özen, Damla Gökşen

{"title":"Does COVID-19 predispose patients to type 1 diabetes mellitus?","authors":"Aysun Ata, Arzu Jalilova, Tarık Kırkgöz, Hafize Işıklar, Günay Demir, Yasemin Atik Altınok, Behzat Özkan, Ayşin Zeytinlioğlu, Şükran Darcan, Samim Özen, Damla Gökşen","doi":"10.1297/cpe.2021-0050","DOIUrl":"https://doi.org/10.1297/cpe.2021-0050","url":null,"abstract":"The novel coronavirus disease (COVID-19) has emerged as a global pandemic. This was a prospective, case-control study conducted in Izmir, Turkey. The aim of this study was to assess the relationship between COVID-19 and new-onset T1DM. We included pediatric patients (aged 6 mo-18 yr) with new-onset type-1 diabetes mellitus (T1DM) diagnosed during the COVID-19 pandemic, between April 2020 and January 2021. Polymerase chain reaction was used to diagnose COVID-19 after hospital admission. An enzyme-linked immunoassay for IgM and IgG against SARS-CoV-2 was performed after the diagnosis was confirmed. In the control group, the blood antibody test was conducted as close as possible to the time of the T1DM patient referral. A total of 118 participants were included in the study, comprising 57 (48%) patients with new-onset T1DM and 61 (52%) healthy controls. Of the 57 patients, 36 (63.2%) presented with DKA, 17 (29.7%) with diabetic ketosis, and four (7%) incidentally. The SARS-CoV-2 antibody test was positive in five (8.7%) patients with T1DM and six (10%) controls. The rate of positivity did not differ between the two groups (p = 0.901). It was not possible to demonstrate a clear association between SARS-CoV-2 infection and new-onset T1DM. Whether SARS-CoV-2 increases susceptibility to diabetes by triggering islet cell autoimmunity and affects the timing of overt diabetes in patients with existing autoimmunity should be studied in large cohorts.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 1","pages":"33-37"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/07/14/cpe-31-033.PMC8713063.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39660862","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: 14

Congenital hypogonadotropic hypogonadism complicated by neuroblastoma. 先天性促性腺功能减退症合并神经母细胞瘤。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-03-30 DOI: 10.1297/cpe.2021-0070

Yukiko Ueta, Keiko Aso, Youichi Haga, Hiroyuki Takahashi, Mari Satoh

引用次数: 0

Markedly elevated troponin and NT-proBNP and myocardial dysfunction in an adolescent with severe diabetic ketoacidosis: A case report. 肌钙蛋白和NT-proBNP显著升高与严重糖尿病酮症酸中毒的青少年心肌功能障碍1例报告。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-05-16 DOI: 10.1297/cpe.2022-0017

Irine-Ikbale Sakou, Alexandra Soldatou, Aristeidis Seretis, Evangelos Karanasios, George Paltoglou, Kyriaki Karavanaki

{"title":"Markedly elevated troponin and NT-proBNP and myocardial dysfunction in an adolescent with severe diabetic ketoacidosis: A case report.","authors":"Irine-Ikbale Sakou, Alexandra Soldatou, Aristeidis Seretis, Evangelos Karanasios, George Paltoglou, Kyriaki Karavanaki","doi":"10.1297/cpe.2022-0017","DOIUrl":"https://doi.org/10.1297/cpe.2022-0017","url":null,"abstract":"Severe diabetic ketoacidosis (DKA), rarely, may be associated with elevated troponin and proBNP levels in adults with a history of diabetes. However, few cases have reported this association in children with severe and complicated DKA. We describe a case of severe DKA (pH: 6.89, HCO3: 6.5) in a 14-yr-old female adolescent in which the symptoms of DKA were presented days before the diagnosis. The patient was under the effect of acidosis (Kussmaul respiration) for 12 h before admission to our hospital, where she was admitted in a critical clinical condition. After successful treatment with DKA with intensive intravenous fluid and regular insulin, the patient presented with abnormal cardiac rhythm, disturbance of interventricular septum motility, a mild decrease in left ventricular systolic function, negative T waves in leads III and aVF, and a marked increase in troponin and brain natriuretic peptide (NT-proBNP) levels. All abnormal findings completely resolved within 8 days after the initiation of DKA treatment. The phenomenon in our case was transient, and the patient had a good long-term outcome. However, it represents a challenge for clinicians; therefore, emphasis should be given to cardiac monitoring during the course of severe and prolonged DKA in children and adolescents.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"192-198"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f9/34/cpe-31-192.PMC9297169.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40694818","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: 1

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio. 6岁新型甲状腺球蛋白基因变异(Gly145Glu)导致细胞内甲状腺球蛋白转运障碍患者的甲状腺肿:甲状腺肿大小与游离T3与游离T4比值的相关性

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-05-16 DOI: 10.1297/cpe.2022-0006

Misayo Matsuyama, Hirotake Sawada, Shinobu Inoue, Akira Hishinuma, Ryo Sekiya, Yuichiro Sato, Hiroshi Moritake

{"title":"Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio.","authors":"Misayo Matsuyama, Hirotake Sawada, Shinobu Inoue, Akira Hishinuma, Ryo Sekiya, Yuichiro Sato, Hiroshi Moritake","doi":"10.1297/cpe.2022-0006","DOIUrl":"https://doi.org/10.1297/cpe.2022-0006","url":null,"abstract":"Thyroglobulin gene abnormalities cause thyroid dyshormonogenesis. A 6-yr-old boy of consanguineous parents presented with a large goiter and mild hypothyroidism (thyroid-stimulating hormone [TSH] 7.2 μIU/mL, free T3 [FT3] 3.4 pg/mL, free T4 [FT4] 0.6 ng/dL). Despite levothyroxine (LT4) administration and normal TSH levels, the goiter progressed slowly and increased rapidly in size at the onset of puberty. Thyroid scintigraphy revealed a remarkably high 123I uptake of 75.2%, with a serum thyroglobulin level of 13 ng/ml, which was disproportionately low for the goiter size. DNA sequencing revealed a novel homozygous missense variant, c.434G>A [p.Gly145Glu], in the thyroglobulin gene. Goiter growth was suppressed by increasing the LT4 dose. Thyroidectomy was performed at 17-yr-of-age. Thyroglobulin analysis of the thyroid tissue detected mutant thyroglobulin present in the endoplasmic reticulum, demonstrating that thyroglobulin transport from the endoplasmic reticulum to the Golgi apparatus was impaired by the Gly145Glu variant. During the clinical course, an elevated FT3/FT4 ratio was observed along with thyroid enlargement. A high FT3/FT4 ratio and goiter seemed to be compensatory responses to impaired hormone synthesis. Thyroglobulin defects with goiter should be treated with LT4, even if TSH levels are normal.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"185-191"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1d/21/cpe-31-185.PMC9297170.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40583170","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

The clinical course of Rathke's cleft cysts in pediatric patients: impact on growth and pubertal development. 儿童Rathke氏裂囊肿的临床过程:对生长和青春期发育的影响。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2021-11-01 DOI: 10.1297/cpe.2021-0034

Yousuke Higuchi, Kosei Hasegawa, Toshihide Kubo, Hiroyuki Tanaka, Hirokazu Tsukahara

引用次数: 1

Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene. 1例因KCNJ11基因C42R突变而被诊断为6个月以上新生儿糖尿病的儿童成功从胰岛素过渡到磺脲类药物

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-05-17 DOI: 10.1297/cpe.2022-0013

Sarah Wing-Yiu Poon, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Joanna Yuet-Ling Tung

{"title":"Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene.","authors":"Sarah Wing-Yiu Poon, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Joanna Yuet-Ling Tung","doi":"10.1297/cpe.2022-0013","DOIUrl":"https://doi.org/10.1297/cpe.2022-0013","url":null,"abstract":"Neonatal diabetes mellitus is a rare monogenic condition affecting 1 in 100,000-300,000 live births. Mutations in the subunits of ATP-sensitive potassium (KATP) channels, which are the central gatekeepers of electrical activity, are the common cause of this condition, thereby reducing insulin secretion in the pancreatic beta cells. Most cases are diagnosed before 6 mo of age. The development of this condition in the latter half of the first year of life is rare; hence, testing in older infants is not routinely performed. Here, we describe the case of a patient who presented with neonatal diabetes mellitus and diabetic ketoacidosis at 10 mo of age. All the pancreatic autoantibodies were undetectable, prompting us to pursue genetic testing. At 13 yr of age, a heterozygous missense variant, C42R, was identified in the KCNJ11 gene by exome sequencing. Subsequently, sulfonylurea was initiated, and insulin therapy was discontinued that resulted in improved blood glucose control and increased C-peptide levels. Given the potential benefit of switching to oral medication, genetic testing should be extended to all infants diagnosed with antibody-negative diabetes before 1 yr of age.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"31 3","pages":"168-171"},"PeriodicalIF":1.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f2/a7/cpe-31-168.PMC9297163.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40671781","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