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Results for “Lipodystrophy”

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PubMed1998

Partial lipodystrophy, mesangiocapillary glomerulonephritis, and complement dysregulation. An autoimmune phenomenon.

Partial lypodistrophy (PLD) is a rare disease in which, there is loss of fat usually from the upper part of the body. The disease is frequently associated with mesangiocapillary (membranoproliferative) glomerulonephritis Type II (MCGN II). In the early 1970s, it was noticed that MCGN II and/or PLD was sometimes associated with dysfunction of the complement system as reported in several case descriptions and studies. Subsequently, an IgG autoantibody was detected-C3 nephritic factor (C3NeF). The target of this autoantibody is the alternative pathway C3 convertase-C3bBb. There are sporadic case reports that linked PLD, MCGNII, and C3NeF with autoimmune diseases. This association may be more than a coincidence. The complement deficiency may lead to perturbation of the immune system, which may trigger some of the autoimmune diseases. This article will be focused on the association among PLD, MCGN II and C3NeF.

Autoimmune Diseases↗
PubMed2006

Prevalence of lipodystrophy in HIV-infected children: a cross-sectional study.

OBJECTIVE: The aim of this study was to assess the changes in body fat distribution and lipid abnormalities in a population of HIV-infected children and adolescents followed in one single centre who had been exposed, or not, to antiretroviral therapy (ART). MATERIALS AND METHODS: Patients aged between 3 and 19 years were evaluated in a cross-sectional study carried out between October and December 2002. Fat redistribution was evaluated independently by the physician and the patient. Fasting blood lipid profile, glucose, insulin and C peptide were measured. Among the 88 patients evaluated, 74 were taking ART. RESULTS: Fat redistribution was present in 20 patients, metabolic alterations alone were found in 22 children and 46 children had neither physical nor metabolic abnormalities. Patients with fat redistribution were found to have been on ART for a significantly longer period of time, with 42% of the children showing fat redistribution having been treated with antiretroviral agents for more than 5 years. These children had also been exposed to a higher number of antiretroviral agents. In contrast, metabolic alterations in the absence of fat redistribution were not related to the duration of ART nor to the number of drugs received. Treatment with stavudine or protease inhibitors was significantly associated with the presence of physical changes. CONCLUSION: Regular assessment of fat redistribution and metabolic markers should be carried out in children treated with antiretroviral agents and taken into account when adapting therapy during the long-term follow up of these children.

Adolescent↗
PubMed1989

Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases.

We report 3 cases of Nasu-Hakola disease found in 2 families. These cases had identical clinical features with progressive spastic paraplegia and severe dementia after adolescence. They had no history of any skeletal symptoms, but roentgenographs of their bones presented characteristic evidence of polycystic osteodysplasia. All cases revealed not only manifestations of this condition in the central nervous system, but also peripheral neuropathy with axonal degeneration. The membranous structures in the adipose tissues appeared histochemically to be composed of a kind of compound glycolipid or glycoprotein. Histopathologically, the biopsied rectum showed the infiltration of many histiocytes in the mucosa and ultrastructurally, the granules in these histiocytes showed many membrane-bound vacuoles of different sizes. Interestingly, the histochemical reactivity of the material in the granules was very similar to that of membranous structures in adipose tissues. In the biochemical analysis of lipids in affected adipose tissues, no marked abnormalities were found in the patients. Nasu-Hakola disease is not a typical form of lysosomal storage disease, because lysosomal enzyme activities remain normal and there is no accumulation of urinary oligosaccharides and lipids, no vacuolation of lymphocytes, and no hepatosplenomegaly. However, histochemical findings suggest that the lysosomes may be secondarily involved in this disease, and that the formation of membranous structures might be related to the disturbance of glycolipid or glycoprotein metabolisms.

Adipose Tissue↗
PubMedDate not supplied

Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy.

We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and in the proximal end of the right femur. Skin biopsy showed subcutaneous and adipose tissue containing membranocystic structures. Cerebral MR and CT scans showed fronto-temporal atrophy, altered signal of the white matter and mineralization of the caudate and dentate nuclei. These findings strongly recall polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, but in the present case, bone alterations were not prominent; moreover, palatal myoclonus has never previously been described in this syndrome.

Adult↗
PubMed2006

Deletion of the serotonin 2c receptor from transgenic mice overexpressing leptin does not affect their lipodystrophy but exacerbates their diet-induced obesity.

The binding of leptin to hypothalamic neurons elicits inhibition of orexigenic NPY/AgRP neurons and stimulation of anorexigenic POMC/CART neurons. Projections of serotonergic neurons onto POMC neurons suggest that leptin and serotonin converge onto POMC neurons to regulate body weight. We probed the interaction of these pathways by generating transgenic mice overexpressing leptin (LepTg) without 5HT2c receptors. On a chow diet, the lean phenotype of LepTg mice was unaffected by the absence of 5HT2c receptors, whereas on a high fat diet, LepTg/5HT2c receptors knockout mice showed an exacerbation of diet-induced obesity. POMC mRNA levels were low in LepTg, 5HT2c receptors knockout and LepTg/5HT2c receptors knockout mice, demonstrating that perturbations of the 5HT2c receptor and leptin pathways, either alone or in combination, negatively impact on POMC expression. Thus, on a chow diet, leptin action is independent of 5HT2c receptors whereas on a high fat diet 5HT2c receptors are required for the attenuation of obesity.

Agouti-Related Protein↗