Rie Kawakita
Boston Children's Hospital
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Featured researches published by Rie Kawakita.
Clinical Endocrinology | 2013
Tohru Yorifuji; Rie Kawakita; Yuki Hosokawa; Rika Fujimaru; Kousaku Matsubara; Katsuya Aizu; Shigeru Suzuki; Hironori Nagasaka; Hironori Nishibori; Michiya Masue
To evaluate the efficacy of long‐term, continuous, subcutaneous octreotide infusion for congenital hyperinsulinism caused by mutations in the KATP‐channel genes, KCNJ11 and ABCC8.
Journal of Medical Genetics | 2012
Tohru Yorifuji; Rie Kawakita; Yuki Hosokawa; Rika Fujimaru; Emi Yamaguchi; Nobuyoshi Tamagawa
GATA6 haploinsufficiency has recently been reported as the most frequent cause of neonatal diabetes with pancreatic agenesis. Although all previously reported cases represented a de novo mutation with complete agenesis or pronounced hypoplasia of the pancreas, in this study we identified a family with a dominantly inherited mutation. Unlike previously reported cases, the degree of pancreatic hypoplasia and the severity of diabetes varied among members of the family, ranging from neonatally lethal diabetes with only a remnant of pancreatic tissue to adult-onset diabetes associated with dorsal agenesis of the pancreas. These observations further broaden the clinical spectrum of diabetes associated with GATA6 haploinsufficiency.
Hormone Research in Paediatrics | 2011
Tohru Yorifuji; Yuki Hosokawa; Rika Fujimaru; Rie Kawakita; Hiraku Doi; Takako Matsumoto; Hironori Nishibori; Michiya Masue
Background: Positron emission tomography (PET) using 18F-DOPA is a useful tool for detecting the focal forms of congenital hyperinsulinism. 18F-DOPA is taken up by aromatic L-amino acid decarboxylase in pancreatic β-cells. However, the role of this enzyme in insulin secretion is unknown. Subjects and Methods: A Japanese boy who presented with symptomatic hyperinsulinemic hypoglycemia at the age of 2 days and spontaneous resolution at 1 year and 10 months was subjected to mutational analysis and repeated 18F-DOPA PET scans. Results: Mutational analysis revealed a paternally inherited monoallelic mutation, c.4186G>T (p.D1396Y), in the ABCC8 gene, and an 18F-DOPA PET scan revealed focal uptake in the body of the pancreas. The patient was successfully treated with frequent feeding. A follow-up PET scan revealed virtually identical uptake to that observed previously. However, in the arterial stimulation-venous sampling procedure, no significant insulin release was observed. He was placed on a normal diet, and no hypoglycemia recurrence was observed. Conclusion: This case demonstrates two important findings. Firstly, the uptake of 18F-DOPA does not correlate with the insulin-secreting capacity of the lesion. Secondly, clinical remission could be a functional process not necessarily accompanied by the apoptotic death of abnormal β-cells.
Pediatric Diabetes | 2014
Tohru Yorifuji; Yukiko Hashimoto; Rie Kawakita; Yuki Hosokawa; Rika Fujimaru; Kazue Hatake; Nobuyoshi Tamagawa; Hisakazu Nakajima; Masayo Fujii
The most common form of transient neonatal diabetes mellitus (TNDM) is 6q24‐related TNDM. Patients are treated with insulin during the neonatal period until spontaneous remission. However, diabetes often recurs in adolescence, and there is no standard therapy for patients with a relapse. A paternal duplication at the 6q24 critical region spanning the pleiomorphic adenoma gene‐like 1 PLAGL1 gene was found in a Japanese patient with TNDM relapse. The patient was treated with a dipeptidyl peptidase‐4 (DPP4) inhibitor, alogliptin, at a dose of 25 mg per day. Immediately after treatment initiation, his hemoglobin A1c (HbA1c) levels dropped from 7.0–7.5% (52–58 mmol/mol) to 6.0–6.5% (41–47 mmol/mol) and remained stable for over a year. We reported the successful treatment of relapsed 6q24‐related TNDM with a DPP4 inhibitor. Although insulin has been the conventional treatment for such patients, treatments targeting the GLP1 pathway can be a useful alternative because these patients retain the β cell mass and responsiveness through G protein‐coupled pathways.
Diabetic Medicine | 2015
Tohru Yorifuji; Keiko Matsubara; Azumi Sakakibara; Yukiko Hashimoto; Rie Kawakita; Yuki Hosokawa; Rika Fujimaru; Akiko Murakami; Nobuyoshi Tamagawa; Kazue Hatake; Hironori Nagasaka; Junichi Suzuki; Tatsuhiko Urakami; M. Izawa; Masayo Kagami
Abnormalities in the imprinted locus on chromosome 6q24 are the most common causes of transient neonatal diabetes mellitus (6q24‐related transient neonatal diabetes). 6q24‐Related transient neonatal diabetes is characterized by the patient being small‐for‐gestational age, diabetes mellitus at birth, spontaneous remission within the first few months and frequent recurrence of diabetes after childhood. However, it is not clear whether individuals with 6q24 abnormalities invariably develop transient neonatal diabetes. This study explored the possibility that 6q24 abnormalities might cause early‐onset, non‐autoimmune diabetes without transient neonatal diabetes.
Pediatric Diabetes | 2018
Azumi Sakakibara; Yukiko Hashimoto; Rie Kawakita; Yuki Hosokawa; Keiko Nagahara; Yukihiro Hasegawa; Shin Hoshino; Hironori Nagasaka; Tohru Yorifuji
To define the ranges of biochemical markers during hypoglycemia for the diagnosis of congenital hyperinsulinism (CHI), using high sensitivity insulin assays.
Pediatric Diabetes | 2018
Tohru Yorifuji; Shinji Higuchi; Rie Kawakita; Yuki Hosokawa; Takane Aoyama; Akiko Murakami; Yoshiko Kawae; Kazue Hatake; Hironori Nagasaka; Nobuyoshi Tamagawa
Causative mutations cannot be identified in the majority of Asian patients with suspected maturity‐onset diabetes of the young (MODY).
Clinical Pediatric Endocrinology | 2018
Tohru Yorifuji; Shinji Higuchi; Yuki Hosokawa; Rie Kawakita
Abstract. Chromosome 6q24-related diabetes mellitus is the most common cause of transient neonatal diabetes (TNDM), accounting for approximately two-thirds of all TNDM cases. Patients with 6q24-TNDM develop insulin-requiring diabetes soon after birth, followed by the gradual improvement and eventual remission of the disorder by 18 mo of age. The most important clinical feature of affected patients is a small-for-gestational age (SGA) birth weight, which reflects the lack of insulin in utero. It is believed that 6q24-TNDM is caused by the overexpression of the paternal allele of the imprinted locus in chromosome 6q24, which contains only two expressed genes, PLAGL1 and HYMAI. Identified mechanisms include: (1) duplication of the paternal allele, (2) paternal uniparental disomy, and (3) hypomethylation of the maternal allele. Many patients with TNDM relapse after puberty. Relapsed 6q24-related diabetes is no longer transient and typically occurs in non-obese patients who are autoantibody negative. Thus, these patients possess features indistinguishable from those of maturity-onset diabetes of the young (MODY). Conversely, it has been shown that not all patients with 6q24-related diabetes have a history of TNDM. 6q24-related diabetes should therefore be considered as one of the differential diagnoses for patients with MODY-like diabetes, especially when they are SGA at birth.
Global pediatric health | 2017
Yoshiko Nakano; Kai Yamasaki; Yasunori Otsuka; Atsushi Ujiro; Rie Kawakita; Nobuyoshi Tamagawa; Keiko Okada; Hiroyuki Fujisaki; Tohru Yorifuji; Junichi Hara
Creative Commons Non Commercial CC-BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits noncommercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). Brief Report
Endocrine Journal | 2017
Yuki Hosokawa; Rie Kawakita; Susumu Yokoya; Tsutomu Ogata; Keiichi Ozono; Osamu Arisaka; Yukihiro Hasegawa; Satoshi Kusuda; Michiya Masue; Hironori Nishibori; Toshimi Sairenchi; Tohru Yorifuji
Octreotide, a long-acting somatostatin analog, has been used for treating hypoglycemia caused by congenital hyperinsulinism (CHI). However, octreotide has not been evaluated in clinical trials and has not been approved in any developed country. We aimed to test the efficacy and safety of octreotide for diazoxide-unresponsive CHI through a combination of a single-arm, open-label clinical trial (SCORCH study) and an observational study to collect data on the clinical course of patients treated off-label in Japan (SCORCH registry). In the SCORCH study, 5 patients were stabilized (blood glucose > 45 mg/dL) by hypertonic glucose infusion, and treated by continuous subcutaneous octreotide infusion at a dose of 5-25 μg/kg/day. Continuous blood glucose monitoring was performed between -24 and +48 hours. In 3 patients, a clinically meaningful rise in blood glucose was achieved and therapy was continued. The glucose infusion was gradually decreased and stopped after 5, 11, and 174 days, respectively. In one case, remission of CHI was reached after 606 days and octreotide was discontinued. The SCORCH registry included 19 diazoxide-unresponsive patients treated by subcutaneous octreotide, by continuous infusion or multiple daily injections. Of the 17 patients treated with hypertonic glucose infusion, the infusion rate was reduced after 4 weeks to less than 50% in 11 patients (64.7%) and stopped in 9 (52.9%). During the combined observation period of 695.4 patient-months in both studies, no severe adverse events related to octreotide were observed. In conclusion, subcutaneous octreotide injection was effective and well tolerated in the majority of patients with diazoxide-unresponsive CHI.