Advanced search
Publication Cover
Endocrine Research Volume 43, 2018 - Issue 4
Submit an article Journal homepage
252
Views
1
CrossRef citations to date
0
Altmetric
Articles

A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria

Banu YurekliDivision of Endocrinology, Ege University, Izmir, TurkeyCorrespondence[email protected]
View further author information
,
Nilufer Ozdemir KutbayDivision of Endocrinology, Ege University, Izmir, TurkeyORCID Iconhttp://orcid.org/0000-0002-0719-988X
ORCID Icon,
Canan AltayDepartment of Radiology, Dokuz Eylul University, Izmir, Turkey
,
Sadiye Mehtat UnluDepartment of Pathology, Dokuz Eylul University, Izmir, Turkey
,
Sait SenDepartment of Pathology, Ege University, Izmir, Turkey
,
Huseyin OnayDepartment of Medical Genetics, Ege University, Izmir, Turkey
,
Tahir AtikDepartment of Medical Genetics, Ege University, Izmir, Turkey
&
Baris AkinciDivision of Endocrinology, Dokuz Eylul University, Izmir, Turkey
 show all
Pages 258-263 | Received 09 Oct 2017, Accepted 24 Apr 2018, Published online: 07 May 2018

References

  • Garg A. Clinical review#: lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011;96(11):3313–3325. doi:10.1210/jc.2011-1159. Epub 2011 Aug 24.
  • Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350(12):1220–1234.
  • Akinci B, Onay H, Demir T, et al. Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. Metabolism. 2017 Jul;72:109–119 doi:10.1016/j.metabol.2017.04.010. Epub 2017 Apr 27.
  • Lüdtke A, Roos GM, Van Hettinga M, Horst BAJ, Worman HJ, Schmidt HH-J. Post-mortem findings in Dunnigan-type familial partial lipodystrophy. Diabet Med. 2010;27(2):245–246.
  • 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. Endocrine. 2009;35(1):18–21.
  • Owen KR, Donohoe M, Ellard S, et al. Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract. 2004;96(2):c35–c38.
  • Brown RJ, Araujo-Vilar D, Cheung PT, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500–4511. doi:10.1210/jc.2016-2466. Epub 2016 Oct 6.
  • Garg A, Peshock RM, Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 1999;84(1):170–174.
  • Mory PB, Crispim F, Freire MB, et al. Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. Eur J Endocrinol. 2012;167(3):423–431. doi:10.1530/EJE-12-0268. Epub 2012 Jun.
  • Payne F, Lim K, Girousse A, et al. Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. Proc Natl Acad Sci U S A. 2014;111(24):8901–8906. doi:10.1073/pnas.1408523111.
  • Farhan SM, Robinson JF, McIntyre AD, et al. A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Can J Cardiol. 2014;30(12):1649–1654. doi:10.1016/j.cjca.2014.09.007.
  • Garg A, Sankella S, Xing C, Agarwal AK. Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. JCI Insight. 2016;1(9):e86870.
  • Javor ED, Moran SA, Young JR, et al. Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. J Clin Endocrinol Metab. 2004;89(7):3199–3207.
  • Garg A, Misra A. Lipodystrophies: rare disorders causing metabolic syndrome. Endocrinol Metab Clin North Am. 2004;33(2):305–331.
  • Thong KM, Xu Y, Cook J, et al. Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. Nephron Clin Pract. 2013;124(1–2):31–37.
  • Rankin J, Auer-Grumbach M, Bagg W, et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A. 2008;146A(12):1530–1542. doi:10.1002/ajmg.a.32331.
  • Fountas A, Giotaki Z, Dounousi E, et al. Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation. Endocrinol Diabetes Metab Case Rep. 2017. eCollection 2017. doi:10.1530/EDM-17-0049.
  • Klupa T, Szopa M, Skupien J, et al. LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype. Endocrine. 2009;36(3):518–523.
  • Guebre-Egziabher F, Alix PM, Koppe L, et al. Ectopic lipid accumulation: a potential cause for metabolic disturbances and a contributor to the alteration of kidney function. Biochimie. 2013;95(11):1971–1979.
  • Kambham N, Markowitz GS, Valeri AM, Lin J, et al. Obesity-related glomerulopathy: an emerging epidemic. Kidney Int. 2001;59(4):1498–1509.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.