Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.

Abstract:

:Bartter syndrome (BS) type 1, also referred to antenatal BS, is a genetic tubulopathy with hypokalemic metabolic alkalosis and prenatal onset of polyuria leading to polyhydramnios. It has been shown that BS type 1 is caused by mutations in the SLC12A1 gene encoding bumetanide-sensitive Na-K-2Cl (-) cotransporter (NKCC2). We had the opportunity to care for two unrelated Japanese patients of BS type 1 with typical manifestations including polyhydramnios, prematurity, hypokalemia, alkalosis, and infantile-onset nephrocalcinosis. Analysis of the SLC12A1 gene demonstrated four novel mutations: N117X, G257S, D792fs and N984fs. N117X mutation is expected to abolish most of the NKCC2 protein, whereas G257, which is evolutionary conserved, resides in the third transmembrane domain. The latter two frameshift mutations reside in the intra-cytoplasmic C-terminal domain, which illustrates the importance of this domain for the NKCC2 function. In conclusion, we found four novel SLC12A1 mutations in two BS type 1 patients. Development of effective therapy for hypercalciuria is mandatory to prevent nephrocalcinosis and resultant renal failure.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Adachi M,Asakura Y,Sato Y,Tajima T,Nakajima T,Yamamoto T,Fujieda K

doi

10.1507/endocrj.k06-204

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

1003-7

issue

6

eissn

0918-8959

issn

1348-4540

pii

JST.JSTAGE/endocrj/K06-204

journal_volume

54

pub_type

杂志文章
  • Reduced carnitine level causes death from hypoglycemia: possible involvement of suppression of hypothalamic orexin expression during weaning period.

    abstract::The mechanism of onset of hypoglycemia in patients with carnitine deficiency has yet to be determined. Using mice with systemic carnitine deficiency (JVS mice), we examined this mechanism, focusing on the weaning period (days 14-28 postpartum). For normal mice, the survival rate was 100%, and no hypoglycemia was obser...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07-044

    authors: Kuwajima M,Fujihara H,Sei H,Umehara A,Sei M,Tsuda TT,Sukeno A,Okamoto T,Inubushi A,Ueta Y,Doi T,Kido H

    更新日期:2007-12-01 00:00:00

  • High circulating follistatin-like protein 1 as a biomarker of a metabolically unhealthy state.

    abstract::The inflammatory biomarkers that fully characterize the metabolically unhealthy (MU) state-which is a risk factor for cardiovascular disease (CVD)-remain unclear. Recent studies suggest follistatin-like protein 1 (FSTL1) could be used as a biomarker for inflammation and CVD, however there is little information on FSTL...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ18-0352

    authors: Lee SY,Kim DY,Kyung Kwak M,Hee Ahn S,Kim H,Kim BJ,Koh JM,Rhee Y,Hwa Kim C,Hyun Baek K,Min YK,Hun Lee S,Kang MI

    更新日期:2019-03-28 00:00:00

  • Simvastatin rescues homocysteine-induced apoptosis of osteocytic MLO-Y4 cells by decreasing the expressions of NADPH oxidase 1 and 2.

    abstract::Clinical studies have shown that hyperhomocysteinemia is associated with bone fragility. Homocysteine (Hcy) induces apoptosis of osteoblastic cell lineage by increasing oxidative stress, which may contribute to Hcy-induced bone fragility. Statins, 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, ameliorate ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ15-0480

    authors: Takeno A,Kanazawa I,Tanaka K,Notsu M,Yokomoto-Umakoshi M,Sugimoto T

    更新日期:2016-04-25 00:00:00

  • Long-term effects of thyroid hormone on lymphocyte subsets in spleens and thymuses of mice.

    abstract::We examined the effects of the long-term administration to mice of thyroid hormone or propylthiouracil (PTU) on lymphocyte subsets in spleens, and thymuses to clarify whether hyperthyroxinemia itself causes the changes in lymphocyte subsets, such as the marked increase in CD5+ B cells and decrease in natural killer (N...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.42.661

    authors: Watanabe K,Iwatani Y,Hidaka Y,Watanabe M,Amino N

    更新日期:1995-10-01 00:00:00

  • Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan.

    abstract::Since 1989, neonatal mass screening for congenital adrenal hyperplasia (CAH) has been carried out in Japan. The mass screening has detected not only the patients with the classic form of steroid 21-hydroxylase deficiency (21-OHD), but also those with the nonclassic (NC) form of 21-OHD, and the molecular basis in these...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07-028

    authors: Shinagawa T,Horikawa R,Isojima T,Naiki Y,Tanaka T,Katsumata N

    更新日期:2007-12-01 00:00:00

  • Antibodies to the 37,000-Mr tryptic fragment of islet antigen were detected in Japanese insulin-dependent diabetes mellitus patients.

    abstract::Sera from 30 Japanese insulin-dependent diabetes mellitus (IDDM) patients of short duration were examined to determine whether they had antibodies to proteolytic fragments of islet antigen, the molecular weights of which were 37,000 and/or 40,000 Mr (37KAb). The median age and disease duration of the patients were 13 ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.43.615

    authors: Ozawa Y,Kasuga A,Maruyama T,Kitamura Y,Amemiya S,Ishihara T,Suzuki R,Saruta T

    更新日期:1996-12-01 00:00:00

  • A family of MEN1 with a novel germline missense mutation and benign polymorphisms.

    abstract::The gene responsible for multiple endocrine neoplasia type 1 (MEN1) has recently been cloned, and its germline mutations were identified in patients with this syndrome. The majority of the mutations, frameshift or nonsense mutations, are expected to result in a loss of function of the gene product menin. Since the con...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.45.753

    authors: Miyauchi A,Sato M,Matsubara S,Ohye H,Kihara M,Matsusaka K,Nishitani A,Takahara J

    更新日期:1998-12-01 00:00:00

  • Three single nucleotide variants of the SIRT1 gene are associated with overweight in a Chinese population: a case control study.

    abstract::We aimed to explore whether common allelic variations in the SIRT1 gene were associated with excess body weight in a Chinese cohort. Using standard molecular techniques 820 non-diabetic individuals, some of who were classified as overweight (> 23 Kg/m(2)), were genotyped for four haplotype-tagged single nucleotide po...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej11-0234

    authors: Zheng J,Chen LL,Xiao F,Hu X,Deng X,Li H

    更新日期:2012-01-01 00:00:00

  • Effect of calcimimetic agent, KRN568, on gastrin secretion in healthy subjects.

    abstract::KRN568 is a calcimimetic compound which acts on the calcium sensing receptors (CaR) on the parathyroid gland to suppress secretion of PTH. A recent report has demonstrated that CaRs are expressed on cultured human antral gastrin cells and that gastrin secretion is stimulated by an increase in extracellular calcium lev...

    journal_title:Endocrine journal

    pub_type: 临床试验,杂志文章

    doi:10.1507/endocrj.47.517

    authors: Igarashi T,Ogata E,Maruyama K,Fukuda T

    更新日期:2000-10-01 00:00:00

  • Diagnostic significance of apical membranous and cytoplasmic dot-like CD26 expression in encapsulated follicular variant of papillary thyroid carcinoma: a useful marker for capsular invasion.

    abstract::Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) and invasive encapsulated follicular variant of papillary thyroid carcinoma (EFV-PTC) are indistinguishable preoperatively. CD26 expression in follicular tumor-uncertain malignant potential (FT-UMP) is reported to be clearly higher t...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ19-0501

    authors: Takagi S,Hirokawa M,Nagashima K,Higuchi M,Kadota K,Ishikawa R,Sato M,Miyauchi A,Miyake Y,Haba R

    更新日期:2020-12-28 00:00:00

  • Thyroxine prophylaxis after bilateral subtotal thyroidectomy for multinodular goiter.

    abstract::In this study, we investigated the value of thyroxine administration to prevent recurrence after bilateral subtotal thyroidectomy for multinodular goiter. Patients that had benign multinodular goiter were operated on with the same surgical principles: ligation of both superior and inferior thyroid arteries on both sid...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.47.349

    authors: Kulaçoglu H,Dener C,Ziraman I,Kama NA

    更新日期:2000-06-01 00:00:00

  • Pioglitazone reduces ER stress in the liver: direct monitoring of in vivo ER stress using ER stress-activated indicator transgenic mice.

    abstract::It is known that endoplasmic reticulum (ER) stress is provoked under diabetic conditions and is possibly involved in the development of insulin resistance. In this study, using ER stress-activated indicator (ERAI) transgenic mice which express green fluorescent protein under ER stress conditions, we directly evaluated...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k09e-140

    authors: Yoshiuchi K,Kaneto H,Matsuoka TA,Kasami R,Kohno K,Iwawaki T,Nakatani Y,Yamasaki Y,Shimomura I,Matsuhisa M

    更新日期:2009-01-01 00:00:00

  • The evolution of non-diabetic hyperglycemia: a longitudinal study.

    abstract::The risk factors for impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) have yet to be established. Our aim was to elucidate the predisposing factors for IFG and IGT in Japanese subjects with normal glucose tolerance (NGT). Using a 75 g oral glucose tolerance test (OGTT), we analyzed 604 adults with t...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej13-0359

    authors: Oka R,Yagi K,Hayashi K,Kawashiri MA,Yamagishi M,Yamada M,Fumisawa Y,Yamauchi K,Aizawa T

    更新日期:2014-01-01 00:00:00

  • Histological changes in placental syncytiotrophoblasts of poorly controlled gestational diabetic patients.

    abstract::It seems reasonable to expect that biochemical changes occurring in the pregnant woman with diabetes should be reflected in the placenta structure. However, it has not been possible to correlate placental morphology with glycemic control in a comparison between those with long life diabetes and poorly controlled gesta...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.41.355

    authors: al-Okail MS,al-Attas OS

    更新日期:1994-08-01 00:00:00

  • Temporal profiles of interleukin-1beta, interleukin-6, and tumor necrosis factor-alpha in the plasma and hypothalamic paraventricular nucleus after intravenous or intraperitoneal administration of lipopolysaccharide in the rat: estimation by push-pull per

    abstract::Lipopolysaccharide (LPS) is known to stimulate the synthesis and secretion of various proinflammatory cytokines in both the peripheral immune cells and the brain. Yet, the relative contribution of peripheral and central cytokines to the LPS-induced activation of the hypothalamo-pituitary-adrenal axis is still poorly u...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.487

    authors: Kakizaki Y,Watanobe H,Kohsaka A,Suda T

    更新日期:1999-08-01 00:00:00

  • Correlation between baseline serum 1,5-anhydroglucitol levels and 2-hour post-challenge glucose levels during oral glucose tolerance tests.

    abstract::Since there is increasing evidence that postprandial hyperglycemia is a risk factor for the development of macrovascular complications, it is important to predict postprandial hyperglycemia in the early stages of glucose intolerance, and routine medical checkups provide a good opportunity to do so. The aim of this stu...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-224

    authors: Goto M,Yamamoto-Honda R,Shimbo T,Goto A,Terauchi Y,Kanazawa Y,Noda M

    更新日期:2011-01-01 00:00:00

  • LHRH effects on hippocampal neurons are modulated by estrogen in rats.

    abstract::The effect of luteinizing hormone releasing hormone (LHRH) on the neuronal activity of CA1 and CA3 regions of the hippocampus was studied by means of extracellular recordings in the castrated male, intact male, castrated female, and castrated female injected s.c. with 20 micrograms estradiol benzoate (EB) for 3 days. ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.42.251

    authors: Osada T,Kimura F

    更新日期:1995-04-01 00:00:00

  • Prognosis of patients with papillary carcinoma showing anaplastic transformation in regional lymph nodes that were curatively resected.

    abstract::Anaplastic carcinoma arises from differentiated carcinoma and generally shows a dire prognosis. Anaplastic transformation may occur not only in primary tumors but also in metastatic lymph nodes. We encountered 5 cases of papillary carcinoma showing anaplastic transformation in lymph nodes that were curatively resected...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k08e-148

    authors: Ito Y,Higashiyama T,Hirokawa M,Fukushima M,Inoue H,Yabuta T,Tomoda C,Uruno T,Kihara M,Takamura Y,Miya A,Kobayashi K,Matsuzuka F,Miyauchi A

    更新日期:2008-12-01 00:00:00

  • Mild persistent hypercalcitoninemia after total thyroidectomy in patients with papillary thyroid carcinoma.

    abstract::Total thyroidectomy was performed in 455 patients with differentiated thyroid carcinoma between 1978 and 1999. Serum calcitonin (CT) was determined preoperatively in all patients using polyclonal antibodies. Among the subjects, 25 patients showed elevated serum calcitonin levels preoperatively. Pathological diagnoses ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.50.453

    authors: Yokoi K,Imai T,Shibata A,Hibi Y,Kikumori T,Funahashi H,Nakao A

    更新日期:2003-08-01 00:00:00

  • Primary granulomatous hypophysitis: a case report and literature review.

    abstract::Primary granulomatous hypophysitis (PGH) is a rarely occurred inflammatory disease of unknown etiology. We retrospective review a case of PGH treated by microsurgical transsphenoidal approach and review the appropriately documented cases of PGH collected from the literatures. The patient was a 56-year-old female who p...

    journal_title:Endocrine journal

    pub_type: 杂志文章,评审

    doi:10.1507/endocrj.k10e-357

    authors: Su SB,Zhang DJ,Yue SY,Zhang JN

    更新日期:2011-01-01 00:00:00

  • Expression of immunoreactive activin A in fetal rat pancreas.

    abstract::Expression of activin A in fetal rat pancreas was studied immunohistochemically by using anti-activin A antibody. On embryonic day 12 (E12), cells in cap-like pancreatic anlage were stained with anti-activin A antibody. In these sections, no immunoreactive insulin or glucagon was observed. On E13.5, cells containing i...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.42.63

    authors: Furukawa M,Eto Y,Kojima I

    更新日期:1995-02-01 00:00:00

  • Effect of treatment with epoprostenol and endothelin receptor antagonists on the development of thyrotoxicosis in patients with pulmonary arterial hypertension.

    abstract::Thyroid disease is known to be associated with pulmonary arterial hypertension (PAH). We investigated the prevalence of thyroid disease in patients with idiopathic PAH (IPAH) or heritable PAH (HPAH), and the factors affecting the pathogenesis of thyroid disease. We retrospectively evaluated 59 patients with IPAH or HP...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ17-0155

    authors: Satoh M,Aso K,Nakayama T,Saji T

    更新日期:2017-12-28 00:00:00

  • Platelet epidermal growth factor in thyroid disorders.

    abstract::We evaluated the concentration of epidermal growth factor (EGF) in platelets, serum and plasma obtained from 47 patients with Graves' disease, 7 with hypothyroidism and 20 healthy subjects. The platelets of the subjects were collected from platelet rich plasma and lysed by freezing and thawing. Subsequently the platel...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.45.83

    authors: Okada M,Kamiya Y,Ito J,Yoshimata T,Kawaguchi M,Shibata H,Fujinami T

    更新日期:1998-02-01 00:00:00

  • Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b.

    abstract::Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases. In this study, we established a method for evaluating the methylation status of...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-364

    authors: Kinoshita K,Minagawa M,Takatani T,Takatani R,Ohashi M,Kohno Y

    更新日期:2011-01-01 00:00:00

  • Change of surgical strategy for Graves' disease from subtotal thyroidectomy to total thyroidectomy: a single institutional experience.

    abstract::The extent of thyroidectomy in Graves' disease remains controversial. In our institution, long-term euthyroidism without thyroxin replacement therapy has been the aim, and it has long been the standard surgical procedure used to treat Graves' disease in many institutions, including our hospital. Based our several clin...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ18-0324

    authors: Sugino K,Nagahama M,Kitagawa W,Ohkuwa K,Uruno T,Matsuzu K,Suzuki A,Tomoda C,Y Hames K,Akaishi J,Masaki C,Ogimi Y,Yabuta T,Ito K

    更新日期:2019-02-28 00:00:00

  • Masked type 1 diabetes mellitus (T1DM) unveiled by glucocorticoid replacement: a case of simultaneous development of T1DM and hypophysitis in an elderly woman.

    abstract::As a rare condition characterized by inflammation of the pituitary gland, hypophysitis usually results in hypopituitarism and pituitary enlargement. The most critical outcome of hypopituitarism is caused by secondary adrenal insufficiency. Glucocorticoid deficiency is a life-threatening condition, and patients who dev...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0213

    authors: Aikawa E,Horie I,Naganobu K,Nozaki A,Kamada A,Abiru N,Kawakami A

    更新日期:2020-11-28 00:00:00

  • Prolactin expresses differential effects on apoptotic cell death of luteal cells in vivo and in vitro.

    abstract::PRL surges in female rats have dual effects of luteal function: either inducing luteolysis during the estrous cycle or rescuing and maintaining luteal function during pseudopregnancy. We analyzed these apparent contradictory effects in relation to apoptosis. The detection of fragmented DNA and in situ 3'-end labeling ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.44.11

    authors: Kanuka H,Matsuyama S,Ohnishi M,Matsumoto Y,Nishihara M,Takahashi M

    更新日期:1997-02-01 00:00:00

  • Drug-induced hyperglycemia in the Japanese Adverse Drug Event Report database: association of evelolimus use with diabetes.

    abstract::Some categories of drugs are known for causing hyperglycemia or diabetes such as steroids, antipsychotics, and immunosuppressant. However, there has been little evidence from studies about the proportion of each drug in the context of drug-induced diabetes. In this study, we used data from the Japanese Adverse Drug Ev...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ18-0553

    authors: Konishi H,Shirakawa J,Arai M,Terauchi Y

    更新日期:2019-06-28 00:00:00

  • Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis.

    abstract::We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in a 13 9/12 -year-old Japanese girl with short stature (-3.9 SD), mild mental retardation, and ventricular septal defect (VSD). This terminal deletion involved IGF1R but not NR2F2, and was associated with an addition of telomere repea...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-251

    authors: Dateki S,Fukami M,Tanaka Y,Sasaki G,Moriuchi H,Ogata T

    更新日期:2011-01-01 00:00:00

  • Sex-related differences in gene expression in neonatal rat hypothalamus assessed by cDNA microarray analysis.

    abstract::Sexual differentiation of the rodent brain is recognized to involve transcriptional activation of multiple genes induced by gonadal steroids at developmental stages. To identify the genes differing in expression level between sexes, we analyzed gene expression in male and female rat hypothalami at postnatal day 5 by m...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.49.131

    authors: Yonehara K,Suzuki M,Nishihara M

    更新日期:2002-04-01 00:00:00