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A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease

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Abstract

Dunnigan-type familial partial lipodystrophy (FPLD) is a rare monogenic adipose tissue disorder in which the affected subjects have increased predisposition to insulin resistance and related metabolic complications, such as glucose intolerance, diabetes, dyslipidemia, and hepatic steatosis. Our patient was a 35-year-old female who had been receiving insulin injection therapy for diabetes mellitus and was transferred to our hospital. She was diagnosed with FPLD on the basis of the following symptoms: increase in subcutaneous fat in the face, neck, and upper trunk; loss of subcutaneous fat in the lower limbs and the gluteal region. We found a heterozygous CGG to CAG transition in codon 482 of exon 8 in the gene encoding lamin A/C (LMNA), which leads to an arginine to glutamine substitution (R482Q). At the time of admission, her serum creatinine level was 8.4 mg/dl, and her blood urea nitrogen (BUN) level was 81 mg/dl. Her serum creatinine level was elevated and hemodialysis was performed twice every week. However, she died of cerebral hemorrhage 9 months after hemodialysis. Although it is uncommon for patients with FPLD to exhibit renal dysfunction and require hemodialysis, this case suggests the need for careful analysis of renal function in a patient with FPLD.

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Authors and Affiliations

  1. Division of Endocrinology and Metabolism, Department of Internal Medicine Faculty of Medicine, Kagawa University, 1750-1, Miki-cho, Kita-gun, Kagawa, 761-0793, Japan

    Hitomi Imachi, Koji Murao, Shouji Ohtsuka, Mako Fujiwara, Tomie Muraoka & Toshihiko Ishida

  2. Center for Diabetes Mellitus, KKR Takamatsu Hospital, Takamatsu, Japan

    Hitoshi Hosokawa

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  1. Hitomi Imachi
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  2. Koji Murao
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  3. Shouji Ohtsuka
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  4. Mako Fujiwara
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  5. Tomie Muraoka
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  6. Hitoshi Hosokawa
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  7. Toshihiko Ishida
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Correspondence to Koji Murao.

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Imachi, H., Murao, K., Ohtsuka, S. et al. A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. Endocr 35, 18–21 (2009). https://doi.org/10.1007/s12020-008-9127-1

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  • DOI: https://doi.org/10.1007/s12020-008-9127-1

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