(MIM 256 300)

Form of congenital nephrotic syndrome. Very rare: 1/8200 births in Finland, less common in other parts of the world.

Autosomal recessive transmission of a mutation of:

-        either the NPHS1 gene (19q13.12) coding for nephrin: this mutation causes an abnormality of the binding between the podocytes of the capillary membrane at the level of the renal glomeruli

-        or the NPSH2 gene (1q25.2) (25 % of cases) coding for podocine, another binding protein between the podocytes.

Fetal early nephrotic syndrome. Resistant to corticotherapy and immunosuppressants. Evolves quickly to chronic renal failure. No recurrence after renal transplantation.

Treatment :

-        IV albumin: to maintain blood volume

-        treatment with converting enzyme inhibitor or indomethacin to reduce proteinuria,

-        uni- or bilateral nephrectomy (around 7-8 kg),

-        peritoneal dialysis in case of renal failure,

-        early renal transplantation (as soon as the child weighs 10 kg).

-        thromboprophylaxis because of secondary hypercoagulability (low serum ATIII levels)

-        often secondary hypothyroidism (protein leakage)

Anesthetic implications:

check the electrolyte, serum creatinine, complete blood count, thyroid function; difficult venous access; risk of thrombosis (central venous access); antibioprophylaxis.

Treatment with conversion enzyme inhibitor. Management of volemia. Peritoneal dialysis or hemodialysis. Risk of persistent arterial hypotension and neurological complications after bilateral nephrectomy.

References :  

-        van Lieburg AF, Monnens LAH.
Persistent arterial hypotension after bilateral nephrectomy in a 4-month-old infant.
Pediatr Nephrol 2001 ; 16 :604-5

-        Dufek S, Hollta T, Trautmann A, Ylinen E, Alpay H et al.
Management of children with congenital nephrotic syndrome : challenging treatment paradigms.
Nephrol Dial Transplant 2019 ; 34 :1369-77 

-        Fares F, Laval N, Assy J, Mulder A.
Syndrome néphrotique congénital de type finlandais en période néonatale : défis diagnostiques et thérapeutiques.
Louvain Médical 2024 ; 143 : 533-9.

Updated: December 2024