Familial systemic lupus erythematosus with hypercalcemia

Abstract

An 8-yr-old girl with familial systemic lupus erythematosus and several severe manifestations, including persistent thrombocytopenia, rapidly progressive renal failure and hepatic failure is described. The course was complicated by the occurrence of hypercalcemia, hypophosphatemia and elevated levels of parathormone, an association not previously reported in children.

An ENU Mutagenesis-Derived Mouse Model with a Dominant Jak1 Mutation Resembling Phenotypes of Systemic Autoimmune Disease

“…75 Hypophosphatemia with hypercalcemia was recently published in one case report on juvenile SLE. 76 It is still unclear whether the hypophosphatemia in Jak1 S645Pþ/À mice arose from primary or secondary effects, but the strong phenotype was consistently found in both young and old Jak1 S645Pþ/À mice. In addition, we found significantly decreased levels of PTH and FGF23 in Jak1 S645Pþ/À mice.…”

Lupus Nephritis With Mild Asymptomatic Hypercalcemia in Children: A Case Report and Literature Review

“…Among 17 cases reported, there were 15 females and 2 males (7, 15); 1 mild hypercalcemia (7) (male), 5 moderate hypercalcemia (2, 8, 12, 15, 16) (1 male and 4 females), 11 severe hypercalcemia (1, 3–6, 9–11, 13, 14, 17) (all females); 2 children (all females) (6, 9), 15 adults; there were 14 cases of hypercalcemia in active stage of SLE, 3 cases of hypercalcemia in remission stage of SLE (3, 6, 12) (all female, 2 of them considered the main cause of non-hypercalcemia in SLE); 15 cases of SLE-related hypercalcemia (1, 2, 4–11, 13–17), and 1 case of hypercalcemia were caused by primary hyperthyroidism (3), The coexistence of SLE and hypercalcemia was considered in only 1 case (3); SLE with PTH elevation in 5 cases [including 3 cases of parathyroid adenoma (1, 6, 12), 1 case of parathyroid cyst (3), 1 case was caused by autoantibody of calcium sensitive receptor (9)], SLE with PTHrP elevation in 3 cases (2, 15, 17); 1 case may be caused by false negative PTHrP (11), 2 cases may be caused by anti-PTHrP (4, 8), 5 cases may be caused by PTH-related protein and autoantibodies (7, 10, 13, 14, 16), 1 case may be related to the decrease of fibroblast growth factor 23 (5); 10 cases had increased serum creatinine or decreased creatinine clearance (2, 4–7, 9–11, 13, 15), 5 cases had LN (7, 9, 10, 13, 15); 7 cases had SLE variants, which were described as hypercalcemia-lymphedema Syndrome, characterized by hypercalcemia and serositis (4, 8, 13–17). Among them, 1 case was positive for PTHrP by lymph node biopsy (15); 6 cases were complicated with ectopic calcification (2–4, 9, 10, 13,…”

“…Among them, 1 case was positive for PTHrP by lymph node biopsy (15); 6 cases were complicated with ectopic calcification (2–4, 9, 10, 13, 17). There were 1 case of SLE complicated with tumors (12); 2 cases died, one died of hypercalcemia crisis (1), the other died of refractory septic shock (9); 11 cases of hypercalcemia were effective by glucocorticoid therapy (2, 4, 5, 7, 8, 10, 11, 13–15, 17), 2 cases were ineffective by glucocorticoid therapy (1, 16); after surgical excision of parathyroid gland, blood calcium returned to normal in 3 cases (3, 6, 12) (Table 1).…”

“…The relationship between hypercalcemia and immune response in renal inflammation is unclear. Kohli et al (9) reported a 8-year-old girl, who was diagnosed SLE with class IV lupus nephritis, severe hypercalcemia, renal calcium deposits. Her kidney biopsy showed diffuse proliferative glomerulonephritis with high activity index.…”

Hypercalcaemia in systemic lupus erythematosus

“…1 To our knowledge only nine cases of patients with SLE with hypercalcaemia, without evidence of primary hyperparathyroidism, have been previously described. [2][3][4][5][6][7][8][9][10] Here we report the 10th patient with SLE and hypercalcaemia, along with a brief review of the literature.…”