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Methods Mol Biol 2019 ;1901:177-182

Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden.

Autoantibodies to the C3 convertase of the alternative pathway of complement, called C3 nephritic factors (C3NeF), cause persistently low C3 in the circulation and production of C3 degradation fragments due to prolonged stabilization of the C3 convertase. C3NeF are associated with glomerulopathy, acquired partial lipodystrophy, and less frequently with increased susceptibility to meningococcal infection. Analysis of C3NeF is an important part of the diagnostic workup of C3 glomerulopathy, but their identification is difficult presumably due to considerable heterogeneity. Read More

J Eur Acad Dermatol Venereol 2018 Nov 25. Epub 2018 Nov 25.

Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, 1 place de l'Hôpital, 67091, Strasbourg, France.

Background: Acquired partial lipodystrophy (APL) is characterized by the gradual symmetrical loss of subcutaneous fat starting from the face, spreading towards the upper part of the body and sparing the lower extremities.

Objective: We report a 33- year-old woman with facial lipodystrophy, loss of buccal fat pads, and breast fat tissue. The subcutaneous fat was preserved in other anatomic regions, and we noted some excess of fat accumulation in the lower abdomen and thighs. Read More

Curr Med Res Opin 2018 Nov 9:1-10. Epub 2018 Nov 9.

d Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré , Service d'endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l'Insulino-Sécrétion et de l'Insulino-Sensibilité (PRISIS) , Paris , France.

Background: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. Read More

Front Immunol 2018 19;9:2142. Epub 2018 Sep 19.

La Paz University Hospital Research Institute, Madrid, Spain.

Acquired generalized lipodystrophy (AGL) is a rare condition characterized by an altered distribution of adipose tissue and predisposition to develop hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Diagnosis of AGL is based on the observation of generalized fat loss, autoimmunity and lack of family history of lipodystrophy. The pathogenic mechanism of fat destruction remains unknown but evidences suggest an autoimmune origin. Read More

Diabetes Care 2018 10;41(10):2255-2258

Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI

Objective: Lipodystrophy syndromes are a heterogeneous group of disorders associated with selective absence of fat. Currently, the diagnosis is established only clinically.

Research Design And Methods: We developed a new method from DXA scans called a "fat shadow," which is a color-coded representation highlighting only the fat tissue. Read More

Endocr Res 2018 Sep 5:1-9. Epub 2018 Sep 5.

a Division of Endocrinology and Metabolism , Dokuz Eylul University, Izmir.

Purpose/Aim of the study: Acquired partial lipodystrophy (APL) is a rare disease characterized by selective loss of adipose tissue. In this study, we aimed to present a subset of patients with APL, who developed severe metabolic abnormalities, from our national lipodystrophy registry.

Materials And Methods: Severe metabolic abnormalities were defined as: poorly controlled diabetes (HbA1c above 7% despite treatment with insulin more than 1 unit/kg/day combined with oral antidiabetics), severe hypertriglyceridemia (triglycerides above 500 mg/dL despite treatment with lipid-lowering drugs), episodes of acute pancreatitis, or severe hepatic involvement (biopsy-proven non-alcoholic steatohepatitis (NASH)). Read More

Acta Derm Venereol 2018 Sep 3. Epub 2018 Sep 3.

Department of Dermatology , Ehime University Graduate School of Medicine, 791-0295 Toon, Japan.

Front Endocrinol (Lausanne) 2018 20;9:458. Epub 2018 Aug 20.

Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.

Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a generalized lipodystrophy phenotype has also been associated with heterozygous mutations in this gene, demonstrating the noticeable phenotypic heterogeneity of this disease. We report and describe clinical and metabolic features of four patients from the same family with the p. Read More

J Cosmet Laser Ther 2018 Aug 17:1-2. Epub 2018 Aug 17.

a Department of Dermatology , University of Minnesota , Minneapolis , MN , USA.

Acquired partial lipodystrophy (APL), also known as Barraquer-Simons syndrome, is a rare disorder characterized by progressive fat loss in the upper body. Use of poly-L-lactic acid and hyaluronic acid (HA) fillers for the treatment of APL is neither approved by the Food and Drug Administration nor described in the literature. Herein, we describe a case of APL that achieved significant improvement in facial volume following treatment with combination poly-L-lactic acid and HA fillers. Read More

J Endocrinol Invest 2018 Apr 27. Epub 2018 Apr 27.

Endocrinology Unit, Obesity Center, University Hospital of Pisa, Pisa, Italy.

Aim: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia.

Purpose: To describe the clinical presentation of known types of lipodystrophy, and suggest specific steps to recognize, diagnose and treat lipodystrophy in the clinical setting.

Methods: Based on literature and in our own experience, we propose a stepwise approach for diagnosis of the different subtypes of rare lipodystrophy syndromes, describing its more frequent co-morbidities and establishing the therapeutical approach. Read More

Nefrologia 2018 May - Jun;38(3):258-266. Epub 2017 Dec 24.

Unidad de Inmunología, Hospital Universitario La Paz, IdiPAZ, Madrid, España; Centro de Investigación Biomédica en Red (CIBERER U754), Madrid, España; Universidad Autónoma de Madrid, Madrid, España. Electronic address:

The activation of the alternative pathway of the complement is involved in the development of several renal diseases, such as atypical haemolytic uremic syndrome and C3 glomerulopathy. In C3 glomerulopathy, a high percentage of patients have circulating levels of the autoantibody called C3NeF, which causes systemic dysregulation of the complement system. In some cases, the presence of this antibody has been related with abnormalities of adipose tissue, causing acquired partial lipodystrophy (Barraquer-Simons syndrome). Read More

Diagn Interv Radiol 2017 Nov-Dec;23(6):428-434

Department of Radiology, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Purpose: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy.

Methods: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included.

Results: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. Read More

J Endocrinol Invest 2017 Nov 18;40(11):1273-1274. Epub 2017 Jul 18.

Obesity Center at the Endocrine Unit, University Hospital of Pisa, Pisa, Italy.

Indian J Pathol Microbiol 2017 Apr-Jun;60(2):290-291

Department of Nephrology, Christian Medical College, Vellore, Tamil Nadu, India.

Endocrinol Diabetes Metab Case Rep 2017 2;2017. Epub 2017 Jun 2.

Departments of Endocrinology.

Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. Read More

J Med Genet 2017 06 13;54(6):413-416. Epub 2017 Apr 13.

Department of Molecular Biology and Genetics, Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.

Background: Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in encoding lamin A/C, a key epigenetic regulator. FPLD2 severity is determined by the occurrence of metabolic complications, especially diabetes and hypertriglyceridaemia. We evaluated the disease history and severity over generations. Read More

Pediatr Blood Cancer 2017 Jul 29;64(7). Epub 2017 Mar 29.

Florida Hospital, Orlando, Florida.

This is a case presentation describing a high insulin requirement that suddenly resolved in a patient with acute lymphoblastic leukemia treated with stem cell transplantation complicated by chronic graft-versus-host disease. The patient was diagnosed with acquired partial lipodystrophy that did not require alternative therapies such as leptin or insulin-like growth factor 1. Read More

Clin Endocrinol (Oxf) 2017 May 27;86(5):698-707. Epub 2017 Mar 27.

Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, MI, USA.

Context: Partial lipodystrophy (PL) is associated with metabolic co-morbidities but may go undiagnosed as the disease spectrum is not fully described.

Objective: The objective of the study was to define disease spectrum in PL using genetic, clinical (historical, morphometric) and laboratory characteristics.

Design: Cross-sectional evaluation. Read More

J Oleo Sci 2017 Feb 18;66(2):161-169. Epub 2017 Jan 18.

Department of Applied Biochemistry and Food Science, Saga University.

Lipodystrophies are acquired and genetic disorders characterized by the complete or partial absence of body fat with a line of metabolic disorders, including hepatic steatosis. Because soy protein isolate (SPI) has been reported to reduce cholesterol and triglyceride levels in animals and humans, we explored the effect of SPI on the pathophysiology of hepatic lipid accumutaion in a diet-induced lipodystrophy model mice. Four weeks of the lipodystrophy model diet induced hepatic lipid accumulation concomitant with marked deficiencies of adipose tissue and serum adipocytokines in mice. Read More

J Diabetes Investig 2017 Jan;8(1):121-122

Department of Medicine, Shiga University of Medical Science, Otsu, Japan.

The unique clinical manifestations of congenital partial lipodystrophy are herein reported due to its rarity. Read More

Clin Sci (Lond) 2017 01;131(2):105-111

Department of Genetics, The Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem 91904, Israel

Lamins are nuclear intermediate filaments (IFs) with important roles in most nuclear activities, including nuclear organization and cell-cycle progression. Mutations in human lamins cause over 17 different diseases, termed laminopathies. Most of these diseases are autosomal dominant and can be roughly divided into four major groups: muscle diseases, peripheral neuronal diseases, accelerated aging disorders and metabolic diseases including Dunnigan type familial partial lipodystrophy (FLPD), acquired partial lipodystrophy (APL) and autosomal dominant leucodystrophy. Read More

J Clin Endocrinol Metab 2017 Feb;102(2):363-374

Evidence-Based Practice Center and.

Context: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue.

Objective: We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, < 18 years).

Data Source: Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016. Read More

Endocrinol Metab Clin North Am 2016 12 6;45(4):783-797. Epub 2016 Oct 6.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8537, USA. Electronic address:

Lipodystrophies are heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. They are subclassified depending on degree of fat loss and whether the disorder is genetic or acquired. The two most common genetic varieties include congenital generalized lipodystrophy and familial partial lipodystrophy; the two most common acquired varieties include acquired generalized lipodystrophy and acquired partial lipodystrophy. Read More

Am J Med Sci 2016 Sep 24;352(3):280-4. Epub 2016 May 24.

Lahey Hospital and Medical Center, Burlington, MA.

Background: Barraquer-Simons syndrome (BSS) is a rare acquired lipodystrophy characterized by gradually symmetric subcutaneous fat loss in a craniocaudal distribution, associated with hypocomplementemia, diabetes and hypertriglyceridemia. Few investigators have studied body fat distribution with cross-sectional imaging techniques.

Methods: We present 2 cases of BSS with emphasis on phenotypic analysis through cross-sectional imaging. Read More

Skeletal Radiol 2016 Nov 8;45(11):1495-506. Epub 2016 Sep 8.

Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.

Objective: To describe the bone imaging features of lipodystrophies in the largest cohort ever published.

Materials And Methods: We retrospectively examined bone imaging data in 24 patients with lipodystrophic syndromes. Twenty-two had genetic lipodystrophy: 12/22 familial partial lipodystrophy (FPLD) and 10/22 congenital generalized lipodystrophy (CGL), 8 with AGPAT2-linked CGL1 and 2 with seipin-linked CGL2. Read More

J Appl Genet 2017 Feb 1;58(1):87-91. Epub 2016 Sep 1.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego St. 5, 02-106, Warsaw, Poland.

Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p. Read More

Diabetes Res Clin Pract 2016 Oct 30;120:1-7. Epub 2016 Jul 30.

Department of Internal Medicine (Endocrinology and Nephrology), University of Leipzig, Liebigstr. 18, 04103 Leipzig, Germany; Leipzig University Medical Center, IFB Adiposity Diseases, Philipp-Rosenthal-Str. 27, 04103 Leipzig, Germany.

Aims: Lipodystrophies (LD) are genetic or acquired disorders sharing the symptom of partial or complete adipose tissue deficiency and a dysregulation of adipokines including leptin and adiponectin. Progranulin, an adipokine with proinflammatory and insulin resistance-inducing characteristics, has not been investigated in LD so far.

Methods: Circulating progranulin was determined in LD patients (N=37) and in age-, gender-, and body mass index-matched healthy control subjects (N=37). Read More

BMJ Case Rep 2016 Jul 11;2016. Epub 2016 Jul 11.

Department of Plastic and Reconstructive Surgery, Odense University Hospital, Odense, Denmark.

This case report describes a female patient diagnosed with Barraquer-Simons syndrome, a rare form of acquired partial lipodystrophy characterised by symmetrical loss of adipose tissue from face, neck, upper extremities and the trunk with onset in early childhood. Initial symptoms were seen at the age of 8 years. Our patient did not show signs of renal impairment and this may be associated with the syndrome. Read More

Diabetes 2016 10 5;65(10):2954-65. Epub 2016 Jul 5.

Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto, Japan Medical Innovation Center, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Agonist-induced activation of peroxisome proliferator-activated receptor-γ (PPARγ) stimulates adipocyte differentiation and insulin sensitivity. Patients with heterozygous PPARγ dominant-negative mutation develop partial lipodystrophy and insulin resistance. Inconsistent with this evidence in humans, it was reported that heterozygous PPARγ knockout mice have increased insulin sensitivity and that mice with heterozygous PPARγ dominant-negative mutation have normal insulin sensitivity and improved glucose tolerance. Read More

Nefrologia 2016 Sep - Oct;36(5):556-558. Epub 2016 May 30.

Departamento de Endocrinología Pediátrica, Hospital Infantil Universitario Niño Jesús, Madrid, España; Departamento de Anatomía Patológica, Hospital Infantil Universitario Niño Jesús, Madrid, España; Instituto de Investigación La Princesa, Madrid, España; Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, España; CIBEROBN, Instituto de Salud Carlos III, Madrid, España.

BMC Res Notes 2016 Mar 18;9:175. Epub 2016 Mar 18.

Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar São João, Alameda Prof. Hernâni Monteiro, 4200, Porto, Portugal.

Background: Human lipodystrophies are uncommon disorders, with important clinical consequences, which are often undiagnosed. The Barraquer-Simons syndrome is a form of partial symmetric lipodystrophy of unknown etiology, characterized by the loss of subcutaneous adipose tissue, limited to upper part of the body. Insulin resistance and metabolic complications are less common than with other lipodystrophy subtypes. Read More

Indian J Dermatol 2016 Jan-Feb;61(1):122

Department of General Medicine, Government Medical College, Jammu, Jammu and Kashmir, India.

Bleomycin toxicity predominantly affects the skin and lungs. Cutaneous toxicity classically known to present with bleomycin are flagellate erythema and drug rash. We hereby report an isolated case of (bleomyicn)-induced acquired partial (lipodytrophy) having potential cosmetic implications in a young women prescribed postoperatively following a case of germ cell carcinoma of ovary (endodermal sinus tumor). Read More

Recent Pat Endocr Metab Immune Drug Discov 2015 ;9(2):74-8

Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

Lipodystrophies are a heterogeneous group of disorders characterized by congenital or acquired loss of adipose tissue. Recently, metreleptin, a recombinant human leptin analog, has been approved for the treatment of patients with generalized lipodystrophy. Leptin is an adipokine which has a fundamental role in glucose and lipid homeostasis. Read More

Ned Tijdschr Geneeskd 2015 ;159:A8872

Deventer Ziekenhuis, afd. Kindergeneeskunde, Deventer.

Background: Partial lipodystrophy is a rare acquired disorder characterised by gradual loss of subcutaneous adipose tissue in the upper half of the body.

Case Description: We saw a 9-year-old girl who had been referred on account of recurrent urinary tract infections. On physical examination, she was noticed to be very thin in the face. Read More

Metabolism 2015 Nov 1;64(11):1530-40. Epub 2015 Aug 1.

Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy. Electronic address:

Background: Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated.

Methods: We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. Read More

Metabolism 2015 Sep 10;64(9):1086-95. Epub 2015 Jun 10.

Dokuz Eylul University, Division of Endocrinology, Izmir, Turkey.

Objective: Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes.

Methods: In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Read More

Expert Opin Biol Ther 2015 Jul;15(7):1061-75

Weill Cornell Medical College, Comprehensive Weight Control Center, Division of Endocrinology, Diabetes & Metabolism , 1165 York Avenue, New York, NY, 10065 , USA

Introduction: Metreleptin was recently approved by the Food and Drug Administration for the treatment of generalized lipodystrophy, a condition characterized by leptin deficiency. Its efficacy as hormone replacement therapy suggests broader applications in diseases also characterized by leptin abnormalities, such as familial partial lipodystrophy (FPLD), non-alcoholic fatty liver disease (NAFLD), and common obesity. Metreleptin, in conjunction with other pharmacologic interventions, has the potential to address one of the most widespread epidemics of our time, obesity. Read More

Case Rep Dermatol 2015 Jan-Apr;7(1):70-4. Epub 2015 Apr 25.

Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.

Lipodystrophy is a group of metabolic disorders, possibly caused by autoimmune disease. In this report, we describe a case of adult-onset acquired partial lipodystrophy accompanied by rheumatoid arthritis without a family history. Interestingly, immunohistochemical staining revealed dense infiltration of IL-27-producing cells as well as MMP-7-and MMP-28-expressing cells, both of which have been reported to facilitate the development of autoimmune disease. Read More

J Physiol Biochem 2015 Sep 2;71(3):471-8. Epub 2015 Apr 2.

Department of Nutrition, Diabetes and Metabolism, Pontificia Universidad Católica de Chile, C/ Av. Libertador Bernardo O'Higgins 340, Santiago, Chile,

Lipodystrophy encompass a group of heterogeneous disorders consisting in marked reduction, absence, and/or the redistribution of adipose tissue. Lipodystrophy is frequently complicated with severe insulin resistance, diabetes, hyperlipidemia, and fatty liver. Anatomically, lipodystrophies can be partial or generalized. Read More

J Clin Endocrinol Metab 2015 May 3;100(5):1802-10. Epub 2015 Mar 3.

Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.

Context: Lipodystrophies are extreme forms of metabolic syndrome. Metreleptin was approved in the United States for generalized lipodystrophy (GLD) but not partial lipodystrophy (PLD).

Objective: The objective of the study was to test metreleptin's efficacy in PLD vs GLD and find predictors for treatment response. Read More

PLoS One 2015 19;10(2):e0117536. Epub 2015 Feb 19.

Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Peking University, Beijing, 100191, China.

Perilipin 1 (Plin1) localizes at the surface of lipid droplets to regulate triglyceride storage and hydrolysis in adipocytes. Plin1 defect leads to low adiposity in mice and partial lipodystrophy in human. This study investigated the roles of Plin1 in adipocyte differentiation. Read More

Acta Ophthalmol 2015 Nov 17;93(7):e598-9. Epub 2015 Feb 17.

School of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.

Front Med (Lausanne) 2015 29;2. Epub 2015 Jan 29.

Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki , Helsinki , Finland ; Huslab, Helsinki University Central Hospital , Helsinki , Finland ; Research Programs Unit, Immunobiology, University of Helsinki , Helsinki , Finland.

The complement system plays a key role in several dermatological diseases. Overactivation, deficiency, or abnormality of the control proteins are often related to a skin disease. Autoimmune mechanisms with autoantibodies and a cytotoxic effect of the complement membrane attack complex on epidermal or vascular cells can cause direct tissue damage and inflammation, e. Read More

Skinmed 2014 Sep-Oct;12(5):271-5

Am J Med Genet A 2014 Jul 1;164A(7):1756-60. Epub 2014 May 1.

Pediatric Genetic Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

The Barraquer-Simons syndrome or acquired parital lipodystrophy is a rare form of partial lipodystrophy characterized by gradual onset of bilaterally symmetrical subcutaneous fat loss from the face, neck, upper extremities, thorax, and abdomen but sparing the lower extremities. The patients gradually loose their subcutaneous fat in clearly demarcated, generally symmetric areas of the body over several years. Nephropathy, myopathy, deafness, epilepsy, and intellectual disability have also been described. Read More

J Am Soc Nephrol 2014 Nov 10;25(11):2425-33. Epub 2014 Apr 10.

Institutes of Genetic Medicine, and

Complement C3 activation is a characteristic finding in membranoproliferative GN (MPGN). This activation can be caused by immune complex deposition or an acquired or inherited defect in complement regulation. Deficiency of complement factor H has long been associated with MPGN. Read More

Pediatr Nephrol 2014 Jul 26;29(7):1283-7. Epub 2014 Jan 26.

Pediatric Nephrology Department, Ondokuz Mayis University Faculty of Medicine, Kurupelit, Samsun, Turkey.

Background: Dense deposit disease (DDD) (also known as membranoproliferative glomerulonephritis type II) in childhood is a rare glomerulonephritis with frequent progression to end-stage renal disease (ESRD) and a high recurrence after kidney transplantation. The pathophysiologic basis of DDD is associated with the uncontrolled systemic activation of the alternative pathway (AP) of the complement cascade.

Case-diagnosis/treatment: A 14-year-old girl presented with edema and nephrotic range proteinuria. Read More

Semin Cell Dev Biol 2014 May 30;29:148-57. Epub 2013 Dec 30.

INSERM UMR_S938, Centre de Recherche Saint-Antoine, F-75012 Paris, France; ICAN, Institute of Cardiometabolism and Nutrition, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S938, F-75005 Paris, France; AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie, F-75020 Paris, France. Electronic address:

Several alterations in nuclear envelope proteins building up the lamina meshwork beneath the inner nuclear membrane (mutations in lamins A/C, alterations of prelamin-A maturation, lamin B mutations or deregulation) have been shown to be responsible for or associated to human lipodystrophic syndromes. Lipodystrophic syndromes are rare and heterogeneous diseases, either genetic or acquired, characterized by generalized or partial fat atrophy associated with metabolic complications comprising insulin-resistant diabetes, dyslipidemia, and non-alcoholic fatty liver disease. Recent advances in the molecular genetics of different types of lipodystrophies generally pointed to primary adipocyte alterations leading to impaired adipogenesis and/or deregulation of the adipocyte lipid droplet. Read More