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Severe arterial hypertension: a possible complication of McCune-Albright syndrome

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Abstract

McCune-Albright syndrome is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous dysplasia. A somatic point mutation of Gsα protein leads to an increase in the Gsα-associated hormone activity in McCune-Albright syndrome. Because cyclic adenosine 3′,5′-monophosphate stimulates the dopamine beta hydroxylase gene, an activating mutation of the Gsα protein may cause the hyperproduction of norepinephrine via dopamine. We report on a 9-year-old girl with McCune-Albright syndrome complicated by severe arterial hypertension. The urinary excretion of norepinephrine was 5- to 10-fold higher than in age-matched controls. Meta-iodobenzylguanidine scintigraphy and positron emission tomography/computed tomography (PET/CT) revealed no hot spots. These findings suggest that severe hypertension might be due to an activating mutation of Gsα protein in sympathetic ganglia. Because of the reported association of GNAS1 gene polymorphism with hypertension, our patient provides further evidence for a role of Gsα protein in hypertension.

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Fig. 1
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Abbreviations

MAS:

McCune-Albright syndrome

GTPase:

Guanosine triphosphatase

cAMP:

Cyclic adenosine 3′,5′-monophosphate

LH:

Luteinizing hormone

TSH:

Thyroid-stimulating hormone

ACTH:

Adrenocorticotropin

GHRH:

Growth hormone-releasing hormone

FGF:

Fibroblast growth factor

GH:

Growth hormone

CT:

Computed tomography

MIBG:

Meta-iodobenzylguanidine

PET/CT:

Positron emission tomography/computed tomography

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Acknowledgment

We thank Dr. Tsuyoshi Chihara for performing the autopsy, Dr. Tomohiko Sakai for the emergency room care, and Dr. Hisao Yoshida for treating the patient when she had viral pneumonia.

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Authors and Affiliations

  1. Department of Pediatrics, Minoh City Hospital, 5-7-1 Kayano, Minoh City, Osaka, 562-8562, Japan

    Yasuhisa Ohata, Takehisa Yamamoto & Ikuko Mori

  2. Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, 951-8520, Japan

    Toru Kikuchi

  3. Department of Environmental Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, 594-1101, Japan

    Toshimi Michigami

  4. Department of Metabolism, Endocrinology and Molecular Medicine, Osaka City University Graduate School of Medicine, Osaka, 545-8585, Japan

    Yasuo Imanishi

  5. Department of Pediatric Nephrology and Metabolism, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, 594-1101, Japan

    Kenichi Satomura

  6. Division of Pediatric Endocrinology and Clinical Nutrition, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, 594-1101, Japan

    Shinobu Ida

  7. Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan

    Yasuhisa Ohata & Keiichi Ozono

Authors
  1. Yasuhisa Ohata
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  2. Takehisa Yamamoto
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  3. Ikuko Mori
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  4. Toru Kikuchi
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  5. Toshimi Michigami
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  6. Yasuo Imanishi
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  7. Kenichi Satomura
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  8. Shinobu Ida
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  9. Keiichi Ozono
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Corresponding author

Correspondence to Takehisa Yamamoto.

Additional information

Yasuhisa Ohata wrote the first draft of the manuscript and there have not been any honorarium, grant, or other form of payment to any of the authors in relation to this manuscript.

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Ohata, Y., Yamamoto, T., Mori, I. et al. Severe arterial hypertension: a possible complication of McCune-Albright syndrome. Eur J Pediatr 168, 871–876 (2009). https://doi.org/10.1007/s00431-008-0848-1

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  • DOI: https://doi.org/10.1007/s00431-008-0848-1

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