記述言語：日本語   出版者・発行元：新潟医学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity. METHODS: This was a single-institution, population-based, retrospective study. The subjects were mothers whose newborns had false-positive NBS, among 80,410 newborns who underwent NBS between April 2016 and May 2021. RESULT: there were 3 new mothers were diagnosed with IEM (2 with primary systemic carnitine deficiency (PCD) and 1 with 3-methylcrotonyl-CoA carboxylase deficiency) out of 5 who underwent examination among 18 false positives. The opportunity for diagnosis was low C0 and high C5-OH acylcarnitine levels in their newborn. Two novel SLC22A5 variants (c.1063T > C/c.1266A > G) were identified in patients with PCD. None of the patients had any complications at the time of diagnosis, but two patients showed improvement in fatigue and headache after taking oral carnitine. CONCLUSION: New mothers with IEM cannot be considered as mild cases and need to be treated when necessary. The two novel SLC22A5 variants further expand the variant spectrum of PCD.

DOI： 10.3390/children10081341

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本マススクリーニング学会  

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/cga.12517

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本糖尿病学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本糖尿病学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：新潟医学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本マススクリーニング学会  

researchmap

掲載種別：研究論文（学術雑誌）   出版者・発行元：Elsevier BV  

DOI： 10.1016/j.gim.2022.02.005

researchmap

記述言語：英語  

OBJECTIVES: A highly invasive pathological diagnosis is necessary to differentiate central diabetes insipidus (CDI) with a thickened pituitary stalk. Lymphocytic infundibulo-hypophysitis (LIH) due to autoimmune involvement of the pituitary stalk is a differentiating disease, and anti-rabphilin-3A antibody (Rab3A-Ab) positivity was recently reported. CASE PRESENTATION: A 7-year-old boy was diagnosed with CDI after having polyuria for two months. He showed growth hormone deficiency with reduced growth rate. Brain magnetic resonance imaging (MRI) revealed a thickened pituitary stalk. The placental alkaline phosphatase level of the cerebrospinal fluid, tumor marker for germ cell tumors, was below the level of sensitivity. No skin or bone findings suggestive of Langerhans cell histiocytosis were detected. Eight months after CDI onset, Rab3A-Ab was positive, and MRI showed shrinking of the thickened pituitary stalk, leading to the diagnosis with LIH. CONCLUSIONS: Rab3A-Ab is a useful adjunctive diagnostic tool for childhood-onset LIH.

DOI： 10.1515/jpem-2021-0674

PubMed

researchmap

記述言語：英語  

Central diabetes insipidus (CDI) is a rare disease in children and has a variety of etiologies. The major causes of CDI with pituitary stalk thickening (PST) are germinoma, Langerhans cell histiocytosis (LCH), and Lymphocytic infundibulo-neurohypophysitis, which are difficult to differentiate by imaging and require pathological diagnosis. We report a case of infantile-onset isolated neurohypophyseal LCH diagnosed by pathological findings. A 2-year-old girl presented with polydipsia and polyuria. CDI was diagnosed and treatment with oral desmopressin was initiated. Magnetic resonance imaging (MRI) of the head showed PST and absence of high-signal intensity of posterior pituitary on T1-weighted images. Follow-up MRI scans showed that the tumor mass was gradually increasing and extending posteriorly toward the area near the mamillary body. Simultaneously, anterior pituitary dysfunction was observed. She underwent a biopsy of the PST and LCH was diagnosed by immunohistochemical analysis. DNA analysis showed no BRAF V600E mutation. Monotherapy with 2-Chlorodeoxyadenosine reduced the tumor size but did not improve pituitary function. Isolated neurohypophyseal LCH should be considered in infantile-onset cases of CDI with PST. 2-CdA treatment resulted in rapid PST shrinkage. Further cases are needed to determine whether early diagnosis and treatment can prevent anterior pituitary dysfunction.

DOI： 10.3390/children9050716

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

A male junior high school student presented with failure to gain weight and acceleration of growth for 2 years. Free triiodothyronine and free thyroxine levels were elevated, and the thyroid-stimulating hormone (TSH) level was suppressed. TSH receptor antibody (TRAb) and thyroid-stimulating antibody were negative. On I-123 thyroid scintigraphy, iodine uptake was most pronounced in the upper pole of the right lobe. The patient was initially diagnosed with asymmetrical TRAb-negative Graves' disease (GD). His thyroid hormone level normalised with potassium iodide (KI) alone, and he became TRAb-positive 4 months after the initiation of KI therapy. This case demonstrates a rare presentation of GD that was initially TRAb-negative, which had asymmetrical iodine uptake on a thyroid scan and was confirmed to be TRAb positivity during the follow-up. KI monotherapy could be one of the effective treatment options for GD that is initially TRAb-negative.

DOI： 10.1136/bcr-2022-249571

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

researchmap

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/cga.12445

PubMed

researchmap

掲載種別：研究論文（学術雑誌）   出版者・発行元：BMJ  

DOI： 10.1136/archdischild-2021-323051

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：英語  

DOI： 10.1016/j.jos.2021.07.021

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1111/cga.12434

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本マススクリーニング学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本マススクリーニング学会  

researchmap

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

症例は4p-症候群の診断でNICU管理中の女児で、新生児スクリーニングでTSH高値を指摘された。日齢15のTSH 2467μIU/mL、遊離T4(FT4) 0.20ng/dL、エコーで甲状腺を認めず、最重症先天性甲状腺機能低下症と診断し、レボチロキシンNa(LT4) 10μg/kg/日を開始した。初診時より児のTSH受容体抗体(TRAb)弱陽性が続いたが、母体のTRAbは陰性であった。LT4を増量しFT4が正常上限以上でもTSH値は正常化せず、TSHとTRAbの非特異反応を疑い追加検査を行った。TSHは希釈直線性が確認され、2STEP法によるキットも同様の結果であり、TSHは真の高値と考えられた。TRAbは分離剤ポリスピッツ血清検体では感度以下であり、NICU採血時にはヘパリンリチウム血漿検体による偽高値と判明した。FT4高値を許容してLT4を増量し、1歳時にTSH値は正常化した。

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

Although newborn screening (NBS) for congenital hypothyroidism (CH) in Japan started more than 40 years ago, the prevalence of CH remains unclear. Prevalence estimations among NBS-positive CH individuals include those with transient hypothyroidism and transient hyperthyrotropinemia, and re-evaluation with increasing age is necessary to clarify the actual incidence. Thus, we re-evaluated the incidence of permanent CH. Of the 106,114 patients who underwent NBS in the Niigata Prefecture, Japan, between April 2002 and March 2006, 116 were examined further due to high thyroid-stimulating hormone levels (>8 mIU/L) and were included in the study. We retrospectively evaluated their levothyroxine sodium (LT4) replacement therapy status from the first visit to 15 years of age. Of the 116 NBS-positive patients, 105 (91%) were initially examined in our department. Of these, 72 (69%) started LT4 replacement therapy on the first visit. Subsequently, 27 patients continued LT4 replacement until 15 years of age after multiple re-evaluations. The prevalence of permanent CH in the Niigata Prefecture during this period was 1 in 2500-3500 children. Ultimately, 62.5% of patients on LT4 replacement discontinued treatment by 15 years of age. This is the first study to clarify the true prevalence of permanent CH in Japan.

DOI： 10.3390/ijns7020027

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1297/cpe.29.201

PubMed

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

Newborn screening (NBS) can detect 21-hydroxylase deficiency (21-OHD), allowing for early treatment initiation. However, many patients present with adrenal crises or hyponatremia at their first visit. Age (in days) of hyponatremia development in infants with salt-wasting (SW)-type 21-OHD remains unclear. Therefore, we determined the earliest age of hyponatremia diagnosis in this retrospective observational study using medical records of 40 patients with classic 21-OHD in Niigata Prefecture, Japan, from April 1989 to March 2019. We determined the earliest diagnosis of hyponatremia (serum sodium levels < 130 mEq/L) and created a sodium decrease rate model to estimate hyponatremia development age. Of 23 patients with SW-type 21-OHD, 10 (43.5%) were identified during NBS; the earliest case to present with hyponatremia was at day 7. Serum sodium levels were significantly and negatively correlated with age in days, and hyponatremia was estimated to develop at 6.6 d after birth. Genotype or serum 17-hydroxyprogesterone levels were not associated with sodium decrease rate. Thus, hyponatremia development age is earlier (within 7 d) than the previously described time-point (10-14 d) in infants with SW-type 21-OHD. Efforts to reduce the time lag from obtaining results to consultation may be required in patients with high 17-hydroxyprogesterone levels on NBS.

DOI： 10.1297/cpe.29.105

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本糖尿病学会  

researchmap

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

researchmap

記述言語：英語   掲載種別：研究論文（学術雑誌）  

AIMS: There are as yet no cohort studies of hypoglycemia in type 1 diabetes before starting insulin therapy. Our aim was to determine the frequency and clinical features of hypoglycemia in patients with type 1A diabetes prior to commencing insulin therapy. METHODS: Eighty-seven patients with type 1A diabetes were enrolled, and a retrospective chart review of the patients was conducted. RESULTS: Hypoglycemia before insulin therapy occurred in six of 87 patients (6.9%). The HbA1c levels at the diagnosis of type 1A diabetes in the hypoglycemia group were lower than in the non-hypoglycemia group (median: 7.3% (56 mmol/mol) vs. 11.9% (106 mmol/mol), p < 0.0001). Similarly, the 24-hour urinary C-peptide (UCPR) levels of the former group were higher than those of the latter group (16.5 μg/day/m2 vs. 7.0 μg/day/m2, p = 0.0075). Hypoglycemic episodes occurred mostly in the postprandial period and gradually disappeared with a decrease in insulin secretion. CONCLUSIONS: We demonstrated that some patients with type 1A diabetes experience hypoglycemic episodes before insulin therapy. Patients with early-stage type 1A diabetes with relatively low HbA1c or high UCPR have a risk of hypoglycemia. These findings may impact when and how insulin is introduced in the treatment of early-stage type 1A diabetes.

DOI： 10.1016/j.diabres.2018.11.011

PubMed

researchmap

記述言語：日本語   出版者・発行元：(一社)日本糖尿病学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

researchmap

記述言語：日本語   出版者・発行元：新潟医学会  

researchmap

その他リンク： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2020&ichushi_jid=J00990&link_issn=&doc_id=20210217070013&doc_link_id=%2Fdg3nigta%2F2020%2Fs13402%2F009%2F0078-0078%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg3nigta%2F2020%2Fs13402%2F009%2F0078-0078%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(有)科学評論社  

CiNii Article

CiNii Books

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：(一社)日本内分泌学会  

researchmap

記述言語：日本語   出版者・発行元：日本マススクリーニング学会  

researchmap