[MIM 617 575]

(Nephrotic syndrome with adrenal failure)

Very rare. Autosomal recessive transmission of a mutation of the SGPL1 gene (10q22.1).

Association of:

-        a  congenital corticoresistant nephrotic syndrome (segmental and focal glomerulosclerosis) very rapidly evolving to renal failure

-        primary adrenal failure.

Often, death in utero.

Sometimes present: ichthyosis, skin hyperpigmentation, immune deficit.

Anesthetic implications:

check renal function, hypoalbuminemia, substitutive corticotherapy

References : 

Updated: July 2018