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Isolated pulmonary hypertension in the grandchild of a kindred with scleroderma (systemic sclerosis): "neonatal
J H Morse1, R J Barst, H H Whitman
1Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY 10032.
Insights
A family study reveals a link between scleroderma (systemic sclerosis) and autoimmune-related neonatal pulmonary hypertension. Shared genetic factors and autoantibodies may play a role in these rare conditions.
Area of Science:
- Immunogenetics
- Rheumatology
- Pediatric Autoimmunity
Background:
- Scleroderma (systemic sclerosis, SSc) is a complex autoimmune disease.
- Neonatal pulmonary hypertension can have various causes, but autoimmune links are rare.
- Autoantibodies, including antinuclear antibodies (ANA) and antitopoisomerase, are associated with SSc.
Purpose of the Study:
- To investigate the potential genetic and autoimmune links in a family with scleroderma and neonatal pulmonary hypertension.
- To explore the immunogenetic basis of scleroderma and its potential overlap with neonatal autoimmune conditions.
- To discuss the implications of autoantibody profiles in familial autoimmune diseases.
Main Methods:
- Case report of a small kindred (father, daughter, granddaughter).
- Clinical assessment for diffuse cutaneous and visceral scleroderma (SSc).
- Serological testing for antinuclear antibodies (ANA) and antitopoisomerase autoantibodies.
- Human Leukocyte Antigen (HLA) and complement component C4B allele typing.
Main Results:
- The father and daughter (proband) had SSc, positive ANA, antitopoisomerase autoantibodies, and shared an HLA-A23-B-DR5-DRw52-DQw3 haplotype.
- The granddaughter presented with severe isolated pulmonary hypertension and a different maternal HLA haplotype, but shared the DRw52 antigen.
- A C4B allele duplication (B1, B2) was noted in the granddaughter.
Conclusions:
- Neonatal pulmonary hypertension may represent an isolated autoimmune disease or a novel neonatal syndrome.
- Shared genetic factors (e.g., DRw52) and autoantibodies may contribute to the manifestation of SSc and neonatal pulmonary hypertension within this family.
- Further research into immunogenetic factors is warranted for understanding familial autoimmune disorders and rare neonatal conditions.
Abstract:
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.