Tohru Yorifuji1,2,3*, Shinji Higuchi1, Rie Kawakita1,2, Yuki Hosokawa1, Takane Aoyama2, Akiko Mur... more Tohru Yorifuji1,2,3*, Shinji Higuchi1, Rie Kawakita1,2, Yuki Hosokawa1, Takane Aoyama2, Akiko Murakami2, Yoshiko Kawae3, Kazue Hatake3, Hironori Nagasaka4, Nobuyoshi Tamagawa2 1 Division of Pediatric Endocrinology and Metabolism, Children’s Medical Center, Osaka City General Hospital, Osaka, JAPAN. 2 Department of Genetic Medicine, Osaka City General Hospital, , Osaka, JAPAN. 3 Clinical Research Center, Osaka City General Hospital, , Osaka, JAPAN. 4 Department of Pediatrics, Takarazuka City Hospital, Takarazuka, JAPAN.
Aims/Introduction: We aimed to investigate the nationwide incidence, treatment details and outcom... more Aims/Introduction: We aimed to investigate the nationwide incidence, treatment details and outcomes of patients with endogenous hyperinsulinemic hypoglycemia (EHH), including those with transient/persistent congenital hyperinsulinism (CHI), insulinoma, noninsulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata's disease) in Japan. Materials and Methods: A nationwide, questionnaire-based survey was carried out to determine the number of patients with EHH who were treated for hypoglycemia or hypoglycemia-related complications in 2017-2018. The questionnaires were sent to all hospitals in Japan with >300 beds, and with pediatric and/or adult clinics likely managing EHH patients. The secondary questionnaires were sent to obtain the patients' date of birth, sex, age at onset, treatment details and post-treatment outcomes. Results: A total of 447 patients with CHI (197 transient CHI, 225 persistent CHI and 25, unknown subtype), 205 with insulinoma (118 benign, 18 malignant and 69 unknown subtype), 111 with non-insulinoma pancreatogenous hypoglycemia syndrome (33 post-gastric surgery HH, 57 postprandial HH, 10 nesidioblastosis and 11 unknown subtype) and 22 with insulin autoimmune syndrome were identified. Novel findings included: (i) marked improvement in the prognosis of persistent CHI over the past 10 years; (ii) male dominance in the incidence of transient CHI; (iii) non-insulinoma pancreatogenous hypoglycemia syndrome emerging as the second most common form of EHH in adults; (iv) frequent association of diabetes mellitus with insulin autoimmune syndrome; and (v) frequent post-treatment residual hypoglycemia and impaired quality of life. Conclusions: The first nationwide, all age group survey of EHH showed the current status of each type of EHH disorder and the unmet needs of the patients.
Journal of Pediatric Endocrinology and Metabolism, 2019
Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respirat... more Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respiratory chain complex I deficiency, which is characterized by cardiomyopathy, lactic acidemia, and muscle weakness. Infantile cardiomyopathy is the most common phenotype and is usually lethal by the age of 5 years. Riboflavin treatment is known to be effective in ~65% of the patients; however, the remaining are unresponsive to riboflavin and are in need of additional treatment measures. In this report, we describe a patient with ACAD9 deficiency who developed progressive cardiomyopathy at 8 months of age. As the patient’s left ventricular ejection fraction (LVEF) kept decreasing to 45.4% at 1 year 8 months, sodium pyruvate treatment was introduced together with a beta-blocker and coenzyme Q10. This resulted in a steady improvement, with full and sustained normalization of cardiac function without riboflavin. The therapy, therefore, might be a useful addition for the treatment of ACAD9 defici...
Tohru Yorifuji1,2,3*, Shinji Higuchi1, Rie Kawakita1,2, Yuki Hosokawa1, Takane Aoyama2, Akiko Mur... more Tohru Yorifuji1,2,3*, Shinji Higuchi1, Rie Kawakita1,2, Yuki Hosokawa1, Takane Aoyama2, Akiko Murakami2, Yoshiko Kawae3, Kazue Hatake3, Hironori Nagasaka4, Nobuyoshi Tamagawa2 1 Division of Pediatric Endocrinology and Metabolism, Children’s Medical Center, Osaka City General Hospital, Osaka, JAPAN. 2 Department of Genetic Medicine, Osaka City General Hospital, , Osaka, JAPAN. 3 Clinical Research Center, Osaka City General Hospital, , Osaka, JAPAN. 4 Department of Pediatrics, Takarazuka City Hospital, Takarazuka, JAPAN.
Aims/Introduction: We aimed to investigate the nationwide incidence, treatment details and outcom... more Aims/Introduction: We aimed to investigate the nationwide incidence, treatment details and outcomes of patients with endogenous hyperinsulinemic hypoglycemia (EHH), including those with transient/persistent congenital hyperinsulinism (CHI), insulinoma, noninsulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata's disease) in Japan. Materials and Methods: A nationwide, questionnaire-based survey was carried out to determine the number of patients with EHH who were treated for hypoglycemia or hypoglycemia-related complications in 2017-2018. The questionnaires were sent to all hospitals in Japan with >300 beds, and with pediatric and/or adult clinics likely managing EHH patients. The secondary questionnaires were sent to obtain the patients' date of birth, sex, age at onset, treatment details and post-treatment outcomes. Results: A total of 447 patients with CHI (197 transient CHI, 225 persistent CHI and 25, unknown subtype), 205 with insulinoma (118 benign, 18 malignant and 69 unknown subtype), 111 with non-insulinoma pancreatogenous hypoglycemia syndrome (33 post-gastric surgery HH, 57 postprandial HH, 10 nesidioblastosis and 11 unknown subtype) and 22 with insulin autoimmune syndrome were identified. Novel findings included: (i) marked improvement in the prognosis of persistent CHI over the past 10 years; (ii) male dominance in the incidence of transient CHI; (iii) non-insulinoma pancreatogenous hypoglycemia syndrome emerging as the second most common form of EHH in adults; (iv) frequent association of diabetes mellitus with insulin autoimmune syndrome; and (v) frequent post-treatment residual hypoglycemia and impaired quality of life. Conclusions: The first nationwide, all age group survey of EHH showed the current status of each type of EHH disorder and the unmet needs of the patients.
Journal of Pediatric Endocrinology and Metabolism, 2019
Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respirat... more Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respiratory chain complex I deficiency, which is characterized by cardiomyopathy, lactic acidemia, and muscle weakness. Infantile cardiomyopathy is the most common phenotype and is usually lethal by the age of 5 years. Riboflavin treatment is known to be effective in ~65% of the patients; however, the remaining are unresponsive to riboflavin and are in need of additional treatment measures. In this report, we describe a patient with ACAD9 deficiency who developed progressive cardiomyopathy at 8 months of age. As the patient’s left ventricular ejection fraction (LVEF) kept decreasing to 45.4% at 1 year 8 months, sodium pyruvate treatment was introduced together with a beta-blocker and coenzyme Q10. This resulted in a steady improvement, with full and sustained normalization of cardiac function without riboflavin. The therapy, therefore, might be a useful addition for the treatment of ACAD9 defici...
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