rare bone dysplasia and chronic lung disease

To illustrate the development of chronic lung disease in an 11-year-old child with spondylo-meta-epiphyseal dysplasia-abnormal calcification type. Method: Historical review and radiological investigation by high resolution computerized tomography of the thorax. Severe bronchiectasis with a mosaic perfusion pattern was demonstrated. The onset of lung disease was insidious in the absence of a history of recurrent respiratory infection and symptoms. We postulate that the rigidity of the chest wall led to restrictive lung disease. Children with this type of dysplasia need careful monitoring of their respiratory status during their early years

Autosomal recessive early-onset nephropathy with progressive focal glomerule sclerosis

We report an inbred Arab family from Oman with 5 children affected with an early-onset nephropathy and an early progression to renal failure. All patients presented with eyelid swelling, proteinuria and microscopic haematuria associated with growth failure. The patients did not present gross oedema or clinical nephrotic syndrome in spite of massive proteinuria and hypoproteinaemia, and there was no response to steroid. Renal biopsy showed progressive focal glomerulosclerosis in 2 of them and an unusual appearance in the 3rd child with deposition of electron-dense immune complexes in the mesangium and subendothelial position. It may be that this is a new type of nephropathy leading to focal glomerulosclerosis. Mapping the gene for this type of nephrosis should be possible in this family using the concept of homozygosity mapping