Publications by authors named "Misa Honda"

4 Publications

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An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia.

Endocrinol Diabetes Metab Case Rep 2021 Apr 1;2021. Epub 2021 Apr 1.

Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan.

Summary: We report a male infant with congenital nephrogenic diabetes insipidus (NDI) who presented with hypercalcemia and hyperphosphatemia since birth. Serum sodium started to increase at 39 days. Although there was no polyuria, urine osmolality was 71 mOsm/kg, when serum osmolality was 296 mOsm/kg with plasma arginine vasopressin 22.5 pg/mL. He was thus diagnosed as NDI. An undetectable level of urine calcium and unsuppressed intact parathyroid hormone suggested hyperparathyroidism including calcium-sensing receptor mutations that could cause hypercalcemia-induced NDI. Polyuria became apparent after the initiation of i.v. infusion for the treatment of hypernatremia. Low calcium and low sodium formula with hypotonic fluid infusion did not correct hypernatremia, hypercalcemia, or hyperphosphatemia. Hydrochlorothiazide and subsequently added celecoxib effectively decreased urine output and corrected electrolytes abnormalities. Normal serum electrolytes were maintained after the discontinuation of low calcium formula. The genetic analysis revealed a large deletion of the arginine vasopressin receptor-2 (AVPR2) gene but no pathogenic variant in the calcium-sensing receptor (CASR) gene. Whether hypercalcemia and hyperphosphatemia were caused by dehydration alone or in combination with other mechanisms remains to be clarified.

Learning Points: Congenital NDI can present with neonatal hypercalcemia and hyperphosphatemia. Hypercalcemia and hyperphosphatemia can be treated with low calcium and low sodium formula, hydration, hydrochlorothiazide, and celecoxib. Genetic testing is sometimes necessary in the differentiating diagnosis of hypercalcemia associated with NDI.
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http://dx.doi.org/10.1530/EDM-20-0189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115416PMC
April 2021

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.

Hum Genome Var 2021 Feb 3;8(1). Epub 2021 Feb 3.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.
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http://dx.doi.org/10.1038/s41439-021-00138-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859387PMC
February 2021

A novel variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Hum Genome Var 2020 28;7:30. Epub 2020 Sep 28.

Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.

We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with bilateral iris depigmentation, bilateral sensorineural hearing loss, Hirschsprung disease, hypogonadotropic hypogonadism, and anosmia. We identified a novel variant, c.124delC, p.Leu42Cysfs*67.
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http://dx.doi.org/10.1038/s41439-020-00118-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522263PMC
September 2020

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

Eur J Med Genet 2013 Sep 26;56(9):526-8. Epub 2013 Jul 26.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

We identified 2.0 Mb of a novel deletion on chromosome 14q12, involving 8 genes and putative regulatory elements of FOXG1 by array CGH in a patient with severe growth and psychomotor retardation, hypotonia, microcephaly, dysmorphic face, and hypoplasia of the corpus callosum. Case of a submicroscopic 14q12 deletion, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, is extremely rare. Using fibroblast cell line established from the patient, we showed that the expression level of FOXG1 in our patient was decreased. Our finding provides additional evidence that not only over-dosage of FOXG1 as previously mentioned, under-dosage of FOXG1 is also associated with phenotype, overlapping between congenital variant of Rett syndrome with FOXG1 mutations and 14q12 microdeletion, not including the coding region of FOXG1. Though the gene dosage of FOXG1 appears to be critical for the normal development of brain, the complex mechanism of its regulation of gene expression remains to be elucidated.
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http://dx.doi.org/10.1016/j.ejmg.2013.05.012DOI Listing
September 2013