TITLE

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

AUTHOR(S)
Hitomi Imachi; Koji Murao; Shouji Ohtsuka; Mako Fujiwara; Tomie Muraoka; Hitoshi Hosokawa; Toshihiko Ishida
PUB. DATE
February 2009
SOURCE
Endocrine (1355008X);Feb2009, Vol. 35 Issue 1, p18
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
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.
ACCESSION #
36177719

 

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics