In other species: dog

Categories: Renal / urinary system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 251300 (trait) , 256020 (trait) , 600995 (trait) , 256370 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Nephrotic syndrome is a kidney disorder in which the body excretes too much protein in the urine. The syndrome is characterised by proteinuria, hypoalbuminaemia and oedema. Nephrotic syndrome is often caused by damage to small blood vessels in the kidneys and can be the consequence of various underlying health conditions, including glomerulonephritis and amyloidosis. Several inherited forms have been described in humans.

Species-specific description: Nephrotic syndrome is often the consequence of underlying glomerular disease (White et al., 2008). See also: 'OMIA 000413-9685 : Glomerulonephritis in Felis catus' and 'OMIA 000040-9685 : Amyloidosis, renal in Felis catus' (Compiled by Rachel Natsume 13/9/2021)

Inheritance: White et al., (2008) describe eight cases of glomerular disease in young, related Abyssinian cats and propose a possible recessive mode of inheritance in these cats.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Presentation with proteinuria, hypoproteinemia (hypoalbuminemia), hypercholesteremia, edema and/or effusion. Although peripheral subcutaneous edema is uncommon in cats, it may be present with severe hypoproteinemia (Farrow and Huxtable, 1971). Pleural effusion and ascites have been reported (White et al., 2008). Persistent proteinuria will exacerbate glomerular damage and may lead to renal failure (Kamie et al., 2010). (Compiled by Rachel Natsume 13/9/2021)

Breed: Abyssinian (Cat) (VBO_0100000).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below