ESPN 51th Annual Meeting

ESPN 2018


 
GENETICALLY INTERESTING FAMILY WITH NEPHROTIC SYNDROME IN THREE SIBLINGS
MEHTAP EZEL ÇELAKIL 1 AFİG BERDELİ 2 ZELAL EKİNCİ 1 BURCU BOZKAYA YÜCEL 1 KENAN BEK 1

1- KOCAELİ UNIVERSITY FACULTY OF MEDICINE DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- EGE UNIVERSITY FACULTY OF MEDICINE MOLECULAR MEDICINE LABORATORY
 
Introduction:

 Hereditary nephrotic syndrome (HNS) often presents as infantile steroid resistant NS. But it may also be seen at older ages. Mutations in the genes highly expressed in podocytes such as NPHS1, NPHS2, WT1, LAMB2 and ADCK4 have been reported to be responsible. Siblings of the patients especially in consanguineous marriages should be screened. Here we report such a family with varying combinations of HNS mutations in all members.

Material and methods:

 CASE

Results:

 Clinical and genetic characteristics of three siblings whose parents are first degree cousins are summarized. The first child of the family presented with NS at the age of 3 and FSGS was detected in renal biopsy performed for steroid resistance. Seven years later 4 years old second girl developed NS and started steroid. The last sibling, a boy at 3 years of age was found to have asymptomatic nephrotic proteinuria on screening. Two younger siblings responded to steroid treatment but not the index case. The mother was found to have mild proteinuria with slightly increased (1.1 mg/dL) serum creatinine. Screening of the family for common HNS mutations revealed a complex - and difficult to interpret - combinations in each member (Table).  

 
Genetic Mutation* 
Mother
Father
1stsibling ♀
2nd sibling ♀
3rd sibling ♂
INF 2
+
 
 
 
+
LAMB 2
+
+
+
+
+
NPHS 1
+
 
+
+
 
PLCE 1
 
+
+
+
 
*All heterozygous
 
 

Conclusions:

 The bizarre combinations and coexistence of different HNS mutations in this family along with different clinical presentation and outcome render the interpretation of phenotype-genotype relation difficult. Parental consanguinity seems to be the most important risk factor. But further data are needed to understand the impact of each single mutation in HNS.