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Items: 2

1.

Erythrocyte cylindruria

Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. [from HPO]

MedGen UID:
637069
Concept ID:
C0522129
Finding
2.

Anti-glomerular basement membrane disease

Goodpasture syndrome, also known as anti-GBM disease, is a rare autoimmune disease consisting of alveolar hemorrhage and glomerulonephritis secondary to circulating antiglomerular basement membrane (anti-GBM) antibodies. Anti-GBM antibodies are directed against an antigen intrinsic to the alpha-3 chain of type IV collagen (COL4A3; 120070) that is expressed in the GBMs of the glomerular capillary loops and the basal membrane of the pulmonary alveoli. Goodpasture syndrome is suspected in patients with hemoptysis and hematuria and is confirmed by the presence of anti-GBM antibodies in renal biopsy specimens and serum. Patients with human leukocyte antigen HLA-DR15 and HLA-DR4 are susceptible to the development of Goodpasture syndrome. Reported cases of familial Goodpasture syndrome are extremely rare (summary by Angioi et al., 2017). [from OMIM]

MedGen UID:
140788
Concept ID:
C0403529
Disease or Syndrome

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