Isolated pulmonary hypertension in the grandchild of a kindred with scleroderma (systemic sclerosis): "neonatal scleroderma"?
We report a small kindred in which the father and daughter with positive antinuclear antibodies (ANA) (proband) had diffuse cutaneous and visceral scleroderma (systemic sclerosis, SSc), antitopoisomerase autoantibodies and shared the HLA-A23 C- B- DR5 DRw52 DQw3 haplotype. The ANA- granddaughter (daughter of the proband) was noted to have severe isolated pulmonary hypertension within the first 6 months of life, and had the other maternal HLA-A1 Cw8 B14 DR1 DQw1 haplotype, which included a B1, B2 duplication of the C4B allele. All 3 members shared DRw52. The possibility that neonatal pulmonary hypertension represents an isolated autoimmune disease or a hitherto undescribed neonatal syndrome is proposed and the immunogenetic autoantibody implications are discussed.
Morse
J H
JH
Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY 10032.
Barst
R J
RJ
Whitman
H H
HH
Fotino
M
M
Jacobs
J C
JC
D000974:Antibodies, Antinuclear / Q000032:analysis; D001323:Autoantibodies / Q000032:analysis; D003165:Complement System Proteins / Q000032:analysis / Q000145:classification; D006680:HLA Antigens / Q000032:analysis / Q000145:classification; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics* / Q000276:immunology; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000276:immunology
D000974:Antibodies, Antinuclear; D001323:Autoantibodies; D006680:HLA Antigens; D003165:Complement System Proteins