ESPN 51th Annual Meeting

ESPN 2018


 
Looks Alports but not Alports syndrome
SARAH MARGARET ROY 1 DEEP ARORA 1 PALLAVI YADAV 1

1- LEEDS CHILDRENS HOSPITAL
 
Introduction:

We present a 9 year old girl with bilateral sensorineural deafness and chronic immune thrombocytopenia (ITP) with haemoproteinuria.  She was subsequently diagnosed to have Fechner’s/ Epstein’s syndrome - an autosomal dominantly inherited disorder caused by mutations in the MYH9 gene. 

Material and methods:

Our patient was diagnosed with ITP aged 5 years after recurrent episodes of epistaxis. Concurrently she was found to have bilateral high frequency hearing loss. At an audiology review aged 9 years urinalysis revealed haematoproteinuria.  

On review she was well grown, normotensive. Urine analysis revealed 3+ blood and 3+ protein. Her full blood count showed thrombocytopenia. Serum creatinine 37umols/L , urea of 4.8mmol/L and a serum albumin of 24g/L.  Urine protein creatinine ratio (PCR) 481mg/mmol. No significant family history .

Results:

A renal biopsy revealed focal segmental focal segmental glomerulosclerosis (FSGS) and foamy macrophages.  EM showed that the basement membrane was disorganised and shows areas of radiolucency and focal lamination. Further genetic analysis specifically looking at the MYH9 gene confirmed a heterozygous mutation in the MYH9 gene.  At 9 months follow up renal function is normal and PCR is 50 mg/mmol on Enalapril. 

Conclusions:

A MYH9-related disorders is a single disorder with a continuous clinical spectrum varying from mild macrothrombocytopenia with leukocyte inclusions to a severe form complicated by hearing loss, cataracts, and renal failure.

Nephropathy occurs in 30% of MYH9 -RD patients. It presents in early adolesence with proteinuria, sometimes causing nephrotic syndrome, with or without microhaematuria. The nephropathy can progress early to loss of renal function, until reaching ESRD requiring dialysis or kidney transplantation before the fourth decade of life.

RAS inhibition reduces proteinuria and has a favourable effect postulated to be a direct protective effect on podocyte structure and function, independent of the haemodynamic effects.