[Urinary calculi in children. Etiologic survey]. / La lithiase urinaire de l'enfant. Enquête étiologique.

Thirty-three children with urinary calculi were studied. In 12, a metabolic cause of calculi was identified (4 hyperoxaluria, 6 hypercalciuria, 2 cystinuria). In 14 children, lithiasis was associated with a urinary tract infection. No identifiable cause could be found in 7 children. A protocol for metabolic evaluation is proposed.

Congenital adrenal hyperplasia associated with hyperphosphatemic rickets.

The authors describe a boy with precocious puberty due to adrenal hyperplasia associated with rickets, hypocalcemia, hyperphosphatemia, elevated PTH and alkaline phosphatase levels, and concentrations of 25-OH-D and 1,25-(OH)2D at the upper limit or above normal range. Treatment with hydrocortisone for 9 months did not normalize hypocalcemia and hyperphosphatemia. The addition of 1,25-(OH)2D3 (0.5-2 micrograms/day) to the corticoid treatment for 1 year was followed by a progressive normalization of plasma calcium, phosphorus, PTH and alkaline phosphatase concentrations with improvement of the osteomalacia on bone biopsy.

[Hereditary deficiency of the 4th component of complement (C4) associated with a lupic syndrome]. / Déficit héréditaire du quatrième composant du complément (C4), associé à un syndrome lupique.

A 2 year-old girl presented with bacterial meningitis followed by a lupus erythematosus syndrome consisting of erythematous rash, Raynaud's phenomenon and mutilating cicatricia atrophy; high speckled antinuclear antibodies and anti-Sm and anti-Ro antibodies titers; a selective absence of C4; moderate mesangial proliferation with IgM and C1q mesangial deposits. Study of the family revealed a linkage of C4 deficiency with the HLA A1 B17/BfF haplotype.