ABSTRACT
BACKGROUND: Hypercalcaemia is a common manifestation of sarcoidosis but is sparingly described in gastrointestinal stromal tumours (GISTs). We describe a case of acute kidney injury and hypercalcemia resulting from simultaneous diagnosis of GIST and sarcoidosis, the presentation of which has not yet been reported. CASE PRESENTATION: A 61-year-old male presented with acute kidney injury and hypercalcemia, with elevated 1,25-dihydroxyvitamin D levels. Investigations demonstrated a large gastric antral mass which was resected and proven to be GIST. Histopathology of incidentally found liver nodules revealed non-necrotising epithelioid granulomas consistent with concomitant sarcoidosis. The hypercalcemia was successfully treated with bisphosphonate therapy, resection of the GIST and a four month course of corticosteroids, which was truncated due to a mycobacterial infection. CONCLUSIONS: Our case report is the first to describe hypercalcemia due to GIST and biopsy-proven sarcoidosis, thereby raising the possibility of a common pathophysiological pathway relating the two entities. We review the literature describing the mechanisms of hypercalcaemia in GIST and the association between GIST and sarcoidosis.
Subject(s)
Gastrointestinal Stromal Tumors , Hypercalcemia , Sarcoidosis , Humans , Hypercalcemia/etiology , Male , Sarcoidosis/complications , Middle Aged , Gastrointestinal Stromal Tumors/complicationsABSTRACT
Nephrotic syndrome presenting in pregnancy is rare and poses a diagnostic and therapeutic challenge. Timing of renal biopsy is important given the increased risk of bleeding and miscarriage, and the choice of immunosuppression is limited due to the teratogenicity profiles of standard drugs. We report and discuss a case of minimal change disease diagnosed by renal biopsy during early pregnancy and treated with corticosteroids throughout the pregnancy. Prompt diagnosis and treatment of glomerular disease in pregnancy are vital to prevent poor maternal and fetal outcomes.
ABSTRACT
Catastrophic antiphospholipid syndrome is a rare multisystem autoimmune condition characterised by rapid development of widespread thrombotic disease and subsequent multi-organ failure. It is the most severe complication of antiphospholipid syndrome, carrying significant morbidity and mortality. We report a patient with post-partum catastrophic antiphospholipid syndrome with cardiac, hepatic, renal and cutaneous manifestations. The diagnostic challenges in establishing a definitive diagnosis in catastrophic antiphospholipid syndrome is discussed, along with the difficulties in managing these patients in the intensive care unit.
ABSTRACT
Mutations in the nucleotide binding domain of the PRR, NOD2, are associated with the autoinflammatory diseases Blau syndrome and early-onset sarcoidosis. Current theories suggest that constitutive activation of the NOD2 pathway may be responsible for pathogenesis of these diseases. Here, we report the phenotype of a kindred with Blau syndrome caused by a novel NOD2 mutation (p.E383D). Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome.
Subject(s)
Arthritis/genetics , Inflammasomes/metabolism , Mutation/genetics , Nod2 Signaling Adaptor Protein/genetics , Sarcoidosis/genetics , Synovitis/genetics , Uveitis/genetics , Adolescent , Adult , Arthritis/diagnosis , Autoimmunity/genetics , Child, Preschool , Cytokines/genetics , Cytokines/metabolism , Female , Genotype , Humans , Infant , Male , Middle Aged , Nod2 Signaling Adaptor Protein/metabolism , Pedigree , Phenotype , Sarcoidosis/diagnosis , Signal Transduction , Synovitis/diagnosis , Uveitis/diagnosis , Young AdultABSTRACT
We describe the clinical course and response to treatment of atypical haemolytic uraemic syndrome (aHUS) in two sisters presenting to our hospital 6 years apart with a novel complement factor H mutation that has not been described previously in literature and demonstrates the genetic complexity of this ultra-rare disease. The contrast in course and outcome of disease between the two sisters highlights the rapid evolution of management of aHUS, the importance of rapidly establishing a diagnosis, and how minimizing time to eculizumab therapy significantly reduces associated morbidity and mortality.