Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

Abstract

The association of a spondyloepiphyseal dysplasia and disproportionate short stature with focal glomerular sclerosis is reported in two girls. Renal disease manifested by proteinuria at the age of 2.5 and 11 years, leading to treatment-resistant nephrotic syndrome over 15 and 45 months, respectively. One patient went into end-stage renal failure shortly after nephrotic syndrome developed, the other died from sepsis. The association of spondyloepiphyseal dysplasia and focal glomerular sclerosis with nephrotic syndrome may represent a distinct disease entity.

Schimke immuno-osseous dysplasia: case report and review of 25 patients

“…The association of focal segmental glomerulosclerosis with spondyloepiphyseal dysplasia has also been described in two patients without mention of the diagnosis of immuno-osseous dysplasia 8. These two patients, the one described here, and the 22 case reports where this diagnosis was quoted can be classified into two different groups as was previously suggested,11 a severe form and a more benign variant.…”

“…Immunosuppressive therapy has never been noted to be beneficial, with the one exception of cyclosporin that decreased the proteinuria in one patient 5. If the patients do not die of severe infection (one death from sepsis at the age of 5 years (case 28), another from bacterial pneumonia at the age of 5 years,6another from sepsis at the age of 6 years2) or because of absence of treatment of the renal failure (patients 1 and 2 died at the age of 8 years of renal failure, patient 4 at 5 years of pulmonary embolism4), they progress to end stage renal failure aged 5 (cases 1, 2, and 311) to 15 years (case 18) and kidney transplantation is required.…”

“…15One patient died at 8 years old from cerebrovascular disease (case 211). The others were alive at ages 313 to 15 years (case 18). …”

“…After end stage renal failure, biopsy specimens are described as focal segmental glomerulosclerosis with foci of tubular atrophy and fibrosis of the interstitium (case 18) and necropsy studies mention diffuse and global sclerosis, atrophic or wide tubuli, fibrotic interstitium, and thickened and hyalinised arterioles (cases 1 and 24). …”

Longevity in Schimke immuno-osseous dysplasia

“…[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] In our cohort, the subset of patients at the mild end of the spectrum were as likely to have intrauterine growth retardation as those with more severe disease. Except for one patient who died from pulmonary oedema secondary to nephropathy, the mildly affected patients survived beyond 20 years of age.…”