Mid-aortic syndrome in two preterm infants.

We report mid-aortic syndrome (MAC) in two preterm infants. Both infants developed malignant hypertension refractory to medical therapy and died early in infancy. Thus far, this account is of the two youngest patients with MAC.

Pseudohypoparathyroidism: a rare cause of bilateral slipped capital femoral epiphysis.

Pseudohypoparathyroidism (PHP) type 1b is a rare childhood disorder characterized by renal resistance to parathyroid hormone (PTH) resulting in biochemical hypoparathyroidism but with skeletal sensitivity to PTH. We describe a patient with PHP type 1b who we believe is one of the youngest reported patients with bilateral slipped capital femoral epiphyses (SCFE).

C1q nephropathy: a variant of focal segmental glomerulosclerosis.

Background: C1q nephropathy is a poorly understood and controversial entity with distinctive immunopathologic features. In order to better define the clinical-pathologic spectrum, we report the largest single-center series.

Methods: Nineteen biopsies with C1q nephropathy were identified from among 8909 native kidney biopsies received from 1994 to 2002 (0.

Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes.