Erschienen in:
09.01.2022 | Clinical Quiz
Infantile nephrotic syndrome, immunodeficiency and adrenal insufficiency—a rare cause: Answers
verfasst von:
Georgie Mathew, M. S. Yasmeen, R. V. Deepthi, Meenakshi Swain, Avinash Vattam, Mehul A. Shah, Indira Agarwal
Erschienen in:
Pediatric Nephrology
|
Ausgabe 4/2022
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Excerpt
Our patient had definitive features of multisystem involvement: nephrotic syndrome (early infantile in origin; possibly congenital) with likely progression to chronic kidney disease, immunodeficiency (oral candidiasis, recurrent diarrhoea and lower respiratory tract infections), adrenal insufficiency (shock, hyponatraemia, hyperkalaemia, hypoglycaemia and low cortisol levels), skin involvement (ichthyosis) and cranial nerve involvement (unilateral oculomotor nerve palsy and hypotonia), indicating a possible syndromic diagnosis. …