Table 2.
Reported cases of kidney involvement in PSTPIP1-associated inflammatory diseases.
| Patient number | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| Study | Holzinger et al. (1) | Holzinger et al. (1) | Holzinger et al. (1) | Lindwall et al. (8) | Dai et al. (9) | Present case |
| Gender | Male | Female | Male | Male | Female | Male |
| Age (years) | 35* | 9 | 16 | 25 | 56 | 22 |
| Age at onset (years) | 6 | 0 | 1 | 4 | 18 | 4 |
| Disease duration (years) | 29 | 9 | 15 | 19 | 38 | 18 |
| PSTPIP1 p.E250K | Y | Y | Y | Y | Y | Y |
| Clinical manifestations | ||||||
| Arthritis | Y | N | Y | Y | Y | Y |
| Pyoderma gangrenosum | Y | N | Y | Y | N | Y |
| Cystic acne | N | Y | Y | Y | N | Y |
| Skin ulcers | Y | N | N | Y | N | N |
| Poor wound healing | Y | N | N | N | Y | Y |
| Hepatomegaly | Y | Y | Y | Y | Y | Y |
| Splenomegaly | Y | Y | Y | N | Y | Y |
| Growth failure | N | Y | Y | N | N | Y |
| Kidney involvement | Minimal-change glomerulonephritis | IgA nephropathy | Glomerulonephritis | Acute kidney failure | Podocyte effacement and glomerular calprotectin dense deposits | Focal segmental glomerulosclerosis |
| Others | Liver cirrhosis, post liver transplant complications | Mild lymphadenopathy, arthralgia, gastrostomy tube feeding, familiarity for early gout | Aseptic necrosis of femoral head | Osteomyelitis, acute cholecystitis, sepsis, colitis, cellulitis, acute respiratory failure, epistaxis, joint and skin laxity, familiarity for psoriatic arthritis | Recurrent pneumonia, lymphadenopathy, macronodular cirrhosis with mild portal hypertension | Growth hormone deficiency |
| Laboratory tests | ||||||
| Anemia | Y | Y | Y | Y | Y | Y |
| Neutropenia | Y | Y | Y | Y | Y | Y |
| Others | N | Thrombocytopenia, MEFV p.E148Q carrier | N | N | Von Willebrand's factor deficiency, high agammaglobulinemia | Dyserythropoiesis at the bone marrow biopsy |
| Treatments | ||||||
| Steroid-sparing drugs (duration; clinical response) | Anakinra (2 months; partial), infliximab (3 months; partial) | Cyclosporin (ND; partial), colchicine (NT) anakinra (ND; complete) | Cyclosporin (ND; partial), mycophenolate mofetil (ND; none), rituximab (NT), tocilizumab (ND; partial) | Infliximab (ND; none) | Sulfasalazine (ND; none), methotrexate (ND; none), colchicine (ND; complete) | Colchicine (NT), adalimumab (3 months; none), anakinra (ND; complete), canakinumab (ND; complete), tacrolimus (ND; partial) |
*
Age of death; ND, not determined; NT, not tolerated; PSTPIP1, proline-serine-threonine phosphatase-interacting protein 1.