Renal transplantation in a patient with Barraquer‐Simons disease and mesangiocapillary glomerulonephritis type II

Chopra, Sandeep; Isaacs, Rajan; Mammen, Kim J; Pawar, Basant

doi:10.1093/ndt/15.10.1723

Cited by 7 publications

(11 citation statements)

References 4 publications

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“…Absence of subcutaneous fat and abundant intraperitoneal fat using axial computerized tomography scan has been reported in 1 patient 137 . Three other investigators have reported similar findings using MRI 36,127,190 .…”

Section: Body Fat Distributionsupporting

confidence: 57%

“…Forty-five cases of APL with histopathologically proven MPGN have been described in the literature (12,24,27,28,34,36,45,47,49,55,73,74,83,84,96,103,108,109,115,121,125,126,134,143,(155)(156)(157)173,188,189) . We estimate the prevalence of histologically documented cases of MPGN to be 22% of all cases (n = 201) since the first description of renal disease in APL patients.…”

Section: Membranoproliferative Glomerulonephritismentioning

confidence: 99%

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Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy

Misra

Peethambaram

Garg³

2004

Medicine

257

252

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We describe clinical features, body fat distribution, and prevalence of metabolic abnormalities in 35 patients with acquired partial lipodystrophy (APL) seen by us over 8 years, and also review 220 cases of APL described in the literature. Based on the review and our experience, we propose that the essential diagnostic criterion for APL is the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the "cephalocaudal" sequence, sparing the lower extremities. Analysis of the pooled data revealed that female patients were affected approximately 4 times more often than males. The median age of the onset of lipodystrophy was 7 years. Several autoimmune diseases, in particular systemic lupus erythematosus and dermatomyositis, were associated with APL. The prevalence rates of diabetes mellitus and impaired glucose tolerance were 6.7% and 8.9%, respectively. Approximately 83% of APL patients had low complement (C) 3 levels and the presence of polyclonal immunoglobulin C3 nephritic factor. Twenty-two percent of patients developed membranoproliferative glomerulonephritis (MPGN) after a median of approximately 8 years following the onset of lipodystrophy. Compared with patients without renal disease, those with MPGN had earlier age of onset of lipodystrophy (12.6 +/- 10.3 yr vs 7.7 +/- 4.4 yr, respectively; p < 0.001) and a higher prevalence of C3 hypocomplementemia (78% vs 95%, respectively; p = 0.02). The pathogenesis of fat loss and MPGN in patients with APL remains unclear, but activation of an alternate complement pathway has been implicated. Treating the cosmetic disfigurement by surgical procedures has yielded inconsistent results. The use of thiazolidinediones to treat fat loss in patients with APL remains anecdotal. Prognosis is mainly determined by renal insufficiency due to MPGN.

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Section: Body Fat Distributionsupporting

confidence: 57%

Section: Membranoproliferative Glomerulonephritismentioning

confidence: 99%

Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy

Misra

Peethambaram

Garg³

2004

Medicine

257

252

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“…No erythematous lesions were present at the beginning of the medical history of either of the patients. Various authors reported an association between this form of partial lipodystrophy and other functional or structural abnormalities, such as deafness [Spranger et al, 1997], epilepsy [Laxenaire et al, 1969], nephropathy [Jeune et al, 1965;Reichel et al, 1976;Bier et al, 1978;Kraai and van Son, 1983;Chopra et al, 2000], myopathy [Palliyath and Garcia, 1982], dermatomyositis [Quecedo et al, 1996], and vasculitis [Porter et al, 2000]. In our patients, all studies and examinations were completely normal, excluding involvement of other organs.…”

Section: Discussionsupporting

confidence: 51%

“…Due to the loss of periorbital and retro-orbital subcutaneous tissue, eyes seem to be sunken and the facial expression is characteristically progeroid. Various anomalies have been reported in the affected patients: renal disorders [Jeune et al, 1965;Reichel et al, 1976;Bier et al, 1978;Kraai and van Son, 1983;Chopra et al, 2000], central nervous system abnormalities, mental retardation, and epilepsy [Laxenaire et al, 1969]. Here we describe two patients affected by the Barraquer-Simons syndrome with only facial involvement; no other structural and functional abnormalities were associated.…”

Section: Introductionmentioning

confidence: 64%

Two new cases of Barraquer–Simons syndrome

Ferrarini

Milani

Bottigelli

et al. 2003

American J of Med Genetics Pt A

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Barraquer-Simons syndrome is a rare form of partial lipodystrophy, mainly characterized by loss of subcutaneous tissue, starting from the face and spreading to the upper part of the body. Occasional functional anomalies such as deafness, epilepsy, and mental retardation can be associated with the condition; nephropathy and myopathy have been observed occasionally. Here we report on two new sporadic cases, who show at the moment only a facial involvement, without any associated anomalies and/or medical complications.

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“…Chopra et al reported a successful renal transplantation without recurrence of disease in a patient who developed progressive renal failure. 5 Other associated disorders are central nervous system dysfunction (including mental retardation), hepatic disorders, hyperlipemia, and diabetes. Histologic examinations show normal skin and muscles with atypical fat atrophy.…”

Section: Pathogenesismentioning

confidence: 99%

Facial contour restoration in Barraquer‐Simons syndrome using two free tram flaps: Presentation of two case reports and long‐term follow‐up

Goossens

Coessens

2002

Microsurgery

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Barraquer-Simons syndrome, a disorder of unknown etiology, is characterized by a cephalothoracic lipodystrophy. We present 2 patients treated with a bilateral free transverse rectus abdominis myocutaneous (TRAM) flap to restore facial contour. Our technique of using a muscle component to fill the cheek defect was based on our experience with free muscle transfer in facial reanimation. In comparison with adipose tissue, muscle tissue does not show a tendency for ptosis because of its consistency and firm attachment of the muscle surface to the surrounding tissues. These cases demonstrate the possibility for the use of simultaneous dissection of the face and flaps, and the reliability of the vascular pedicle. The stability of the abdominal wall was secured by closure of the rectus sheath over Teflon mesh, which has been proven to prevent hernia. Our long-term follow-up demonstrates a stable symmetrical facial appearance.

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Renal transplantation in a patient with Barraquer‐Simons disease and mesangiocapillary glomerulonephritis type II

Cited by 7 publications

References 4 publications

Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy

Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy

Two new cases of Barraquer–Simons syndrome

Facial contour restoration in Barraquer‐Simons syndrome using two free tram flaps: Presentation of two case reports and long‐term follow‐up

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