A FAMILY OF FLARE- A CASE OF LUPUS NEPHRITIS ASSOCIATED WITH SPENDCI SYNDROME WITH A SISTER HAVING SIMILAR SYNDROME

A FAMILY OF FLARE- A CASE OF LUPUS NEPHRITIS ASSOCIATED WITH SPENDCI SYNDROME WITH A SISTER HAVING SIMILAR SYNDROME

Rachna Pagnis¹, Kirsten Hepburn¹, Eoin O’Sullivan^1,2, Priyanka Puri<sup>1,3

1</sup>Kidney Health Service, Metro North Health, Brisbane, QLD, Australia
²Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
³Translational Research Institute, The University of Queensland, Brisbane, QLD, Australia

Abstract

Background
SPENDCI Syndrome (spondyloenchondrodysplasia) is characterized by skeletal dysplasia’s and most distinctly can be associated with immune dysregulation. It is known to be associated with systemic lupus erythematosus and Lupus Nephritis as well as other autoimmune conditions such as scleroderma, sjogrens syndrome.
Case report
The patient was a 22-year-old female with SPENDCI Syndrome with lupus nephritis with a family history of lupus nephritis who also shared her diagnosis of SPENDCI Syndrome.
The patient presented with generalized eczematous dry rash associated with post inflammatory hyperpigmentation to her trunk and torso associated with sub-nephrotic range proteinuria with preserved renal function, 950mg in 24hour urine with a bland microscopy. Her laboratory investigations revealed a positive ANA at 1:320, positive Anti DFS 70 and a negative Anti DsDNA of <7. Her complements were normal, and she had a marginally low IgM Level. Her hematology was remarkable for neutropenia with a normal haemoglobin and inflammatory markers. Given worsening proteinuria and significant family history of severe lupus nephritis, she underwent a renal biopsy which revealed class IV Lupus nephritis which responded well to initial treatment with Hydroxychloroquine and Mycophenolate. Conclusion This case highlights the importance of a careful family history, where the disease course in the patient’s sibling was an alert signal to consider autoimmune glomerulonephritis in the first instance which led to early diagnosis and treatment. The absence of a positive dsDNA and bland urine sediment, may ordinarily have delayed a diagnosis of LN. Hence, it is important to understand the association of SPENDCI and LN, to allow early diagnosis and management, as early treatment can preserve renal function and potentially delay the need for kidney replacement therapy.

Biography

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