Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.

Focal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury. FSGS can be caused by mutations in genes encoding proteins that play key roles in the function of the podocyte and glomerular basement membrane. In this case report we present a family with FSGS initially suspected to be Alport syndrome. Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2.

Review on diagnosis and treatment of focal segmental glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is one the most important causes of the nephrotic syndrome in adult patients. FSGS is not a disease entity. The identification of underlying causes of FSGS (secondary FSGS) has increased our insight into the pathogenesis of FSGS. Moreover, differentiating between primary (idiopathic) and secondary forms of FSGS is important to allow appropriate treatment. Recently a new pathological classification of FSGS was proposed, expanding FSGS to include nonsclerotic lesions. In this review we discuss the current diagnostic and therapeutic options in patients with FSGS.

Idiopathic focal segmental glomerulosclerosis: a favourable prognosis in untreated patients?

BACKGROUND: Patients with focal segmental glomerulosclerosis (FSGS) are considered to have a poor prognosis and spontaneous remissions are seldom reported. However, FSGS is not a single disease entity. Our aim was to describe the clinical course in initially untreated patients with recently diagnosed idiopathic FSGS. METHODS: This was a retrospective study of patients with a diagnosis of FSGS by histology, who fulfilled the following criteria: proteinuria >3.5 g/day, normal renal function, duration of proteinuria or hypertension of less than one year, normal-sized kidneys, no underlying renal disease, and a negative family history. Renal biopsies were reviewed without knowledge of the clinical course. RESULTS: Twenty patients (13 male, 7 female) fulfilled the study criteria. Median age was 49.3 (range 21.8 to 73.0) years, serum creatinine 90 +/- 20 micromol/l, proteinuria 10.0 +/- 5.5 g/day and serum albumin 24 +/- 6 g/l. After a median follow-up of 9.4 (2.1-18.6) years, 13 patients (65%) were in remission of proteinuria. Renal function deterioration occurred in seven patients, and prompted treatment in four of them. The ten-year death-censored renal survival was 89%. Renal function deterioration and remission rate could be predicted by selectivity index, serum albumin at three months after renal biopsy and the percentage of glomeruli with segmental sclerosis. CONCLUSION: Focal glomerulosclerosis is not a single disease. Case definition using strict clinical criteria identifies a subgroup of patients with idiopathic FSGS who have a good prognosis. In the majority of these patients immunosuppressive therapy is not warranted.

Diagnosis and treatment of primary glomerular diseases. Membranous nephropathy, focal segmental glomerulosclerosis and IgA nephropathy.

Membranous nephropathy, focal segmental glomerulosclerosis (FSGS) and IgA nephropathy are the most frequent and important primary glomerulopathies. Idiopathic membranous nephropathy and primary FSGS usually present with a nephrotic syndrome with or without renal insufficiency, whereas IgA nephropathy is more often characterized by (symptomless) hematuria and proteinuria. Although the outcome of these glomerulopathies is quite variable, many patients will progress to end-stage renal disease. In this review we discuss several aspects of the primary glomerulopathies with emphasis on the potential benefit of specific immunosuppressive regimens.

Outcome of renal transplantation in patients with pauci-immune small vessel vasculitis or anti-GBM disease.

AIM: Pauci-immune small vessel vasculitis (SVV) and anti-GBM disease are the most common causes of rapidly progressive glomerulonephritis (RPGN) and they frequently lead to end-stage renal disease. For renal replacement therapy, renal transplantation is the preferred treatment option. However, in patients with glomerular diseases, the outcome of renal transplantation can be adversely affected by recurrence of the original disease. The information in the medical literature on the outcome of renal transplantation in patients with RPGN is limited because most data are derived from case studies and from studies involving a small number of patients. METHODS: We studied the outcome of renal transplantation in patients with pauciimmune SVV or anti-GBM disease, transplanted in our center between 1968 and 2000. Patient and graft survival were compared with a matched control group from our hospital. We specifically looked for any evidence of recurrent disease. RESULTS: Included in the study were 43 patients (31 male, 12 female) with a mean age (+/- SD) of 48 +/- 15 years at transplantation. Patients were diagnosed as Wegener's granulomatosis (n = 8), microscopic polyangiitis (n = 7), renal limited vasculitis (n = 18) and anti-GBM disease (n = 10). The average follow-up was 62 +/- 57 months. No graft was lost due to recurrence of the underlying disease. One patient with Wegener's granulomatosis had a relapse with only extrarenal manifestations 5 months after transplantation. Patient and graft survival at 5 years after transplantation were 77% and 60%. Survival rates were not significantly different from a matched control group of renal transplant patients with other underlying diseases, 79% and 56%, respectively. Patients with pauci-immune SVV or anti-GBM disease developed significantly more malignancies than the control group (p = 0.02). CONCLUSIONS: Recurrence of pauci-immune SVV and anti-GBM disease after transplantation is rare. Renal transplantation can be successfully performed in patients with pauciimmune vasculitis or anti-GBM disease. Physicians should be aware of the greater risk of developing malignancies, especially skin cancer.

Ventricular fibrillation and rhabdomyolysis after administration of succinylcholine.

Succinylcholine is a depolarising muscle relaxant. Because of its quick onset of action, it is particularly used in situations which require urgent intubation. However, there have been several reports of cardiac arrest after administration of succinylcholine. We describe the case of a young woman who developed ventricular fibrillation and rhabdomyolysis following succinylcholine administration. Possible mechanisms and treatment are discussed.