Group | Total (n) | Age of presentation below five years and pattern of presentation. n (%) | Demography n (%) | Extrapulmonary disease n (%) | |
---|---|---|---|---|---|
Arthritis | Kidney disease | ||||
Watkin LB. et al., 2015 [3] | (21). The access to clinical information and DNA on twenty-one patients from the five families, there was a total of twenty-seven affected patient. | 16/21 (76%) Presentation: Hemoptysis, Tachypnea, Cough: 14/21 (67%), Arthralgia:5/21 (24%). | Males: 8/21 (38%). Females: 13/21 (62%). Age range at presentation was six months to 22 years. Mean age at presentation was 3.5 years. | 20/21 (95%) Destructive polyarthritis 20/21 (95%) (Involving both small and large joints). Most commonly affected joints were knees and the interphalangeal joints of the hands. 2/21 (9.5%) had osteonecrosis along the femur, patella, and tibiofibula. 1/21 (4.7%) had fat necrosis. No uveitis. | 4/21 (19%) No specific clinical or histopathological disease patterns. |
Jensson BO. et al. 2017 [4] | (3) (two generations in the same family) | 1/3 (33%) The index case (IC): diagnosed at 32 years of age but had a history of JIA. The male child of the index case (MC2) presented at 11 years with a chronic cough and asthma-like symptoms and polyarthritis, female child (FC3) at 18 months of age as JIA and at ten years developed exercise intolerance, recurrent respiratory infections, and a recurring skin rash All the three presented as JIA and years later developed pulmonary symptoms. The pulmonary and joints symptoms did not run hands in hand. | 1/3 F (33%) Index case diagnosed at 32 years but had H/O JIA. (MC2) 1/3 (33%) presented at 11 years of age with respiratory symptoms and arthritis. (FC3) 1/3 (33%) presented at 18 months of age with arthritis. All the three were caucasian- Icelandic. | 3/3 (100%) Polyarthritis (large and small joints) which went into remission without joint destruction in 2/3 (67%) of patients. No Uveitis. | 0/3 (0%) |
Brennan MA. et.al. 2017 [8] | (1) | 1/1 (100%) Presented with small and large joint arthritis | 30 months old F, Caucasian. | 1/1 (100%) Polyarthritis (large and small joints) No Uveitis. Arthritis went into remission after 13 months with no joint destruction. Comorbidities: gastro-esophageal reflux, CF, SLE, MAS. | 0/1 (100%) |
Volpi S et.al. 2018 [7] | (1) | 1/1 (100%) Presented with arthritis of wrists, cervical spine, metacarpophalangeal joints, and left hip. | Three years old Caucasian female | Severe, progressive destructive, Polyarticular (small and large joints) degenerative osteoarthritic changes ++. Poor response to immunosuppressants and steroids. | 0/1 (100%) |
Tsui JL. et.al. 2018 [2] | (14) | Age at presentation: years < 1–1/14 (7%), 2–9 years- 10/14 (71%), 10–12 years – 3/14 (21%). Presentation: Arthralgia-7/14 (50%), hemoptysis-4/14 (28.5%), Shortness of breath-9/14 (64%), Renal disease-0/14 (0%) | Males: 3/14 (21%), Females: 11/14 (79%), Caucasians:12/14 (86%), Asian: 2/14 (14%), | 14/14 (100%)-Poly arthritis (small and large joints) 2/14 (14%) had cervical spine arthritis. No Uveitis. | 3/14 (21%) Renal: 2/3 (67%) renal biopsies had IgG, IgA, IgM, C1q positive. 1/3 (33%) had strongly positive IgA immunofluorescence. Two were ANCA positive (one PR3 positive). None required hemodialysis. |
Patwardh A. et.al. | (2) (two generations in the same family). The index case (IC) and the father of the index case (C2). | 1/2 (100%) Both presented with a chronic cough, recurrent respiratory infections, asthma-like symptoms, deteriorating exercise tolerance, shortness of breath, unexplained chronic anemia. | 2/2 (100%) males. IC: 2 years eight months old at presentation, mixed race (Caucasian- Hispanic). C2: 7 years old (maybe younger) at presentation, Caucasian male. | 0/2 (0%) C2 had arthralgia up until 26 years of age but then developed severe destructive polyarthritis involving small as well as large joints. Index case had no joint symptoms. | 0/2 (0%) |