ESPN 50th Annual Meeting

ESPN 2017


 
Familial Hypomagnesemic Hypercalcemic Nephrocalcinosis in a Patient with Diffuse Medullary Nephrocalcinosis
EMEL Ä°SIYEL 1 ADEM YASIN KOKSOY 1 MELTEM KURTUL 2 BILGE KARABULUT 3 FATMA SEMSA CAYCI 1 UMUT SELDA BAYRAKCI 4

1- ANKARA CHILD HEALTH HEMATOLOGY ONCOLOGY RESEARCH AND TRAINING HOSPITAL
2- ANKARA CHILD HEALTH HEMATOLOGY ONCOLOGY RESEARCH AND TRAINING HOSPITAL, DEPARTMENT OF PEDIATRICS
3- ANKARA CHILD HEALTH HEMATOLOGY ONCOLOGY RESEARCH AND TRAINING HOSPITAL, DEPARTMENT OF UROLOGY
4- ANKARA YILDIRIM BEYAZIT UNIVERSITY DEPARTMENT OF PEDIATRIC NEPHROLOGY
 
Introduction:

 Renal tubuler disorders are a group of diseases that can occur with different clinical findings.Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of calcium and magnesium, nephrocalcinosis, chronic kidney disease, and early progression to end-stage renal failure during infancy.

Material and methods:

 A six year-old boy presented with fever and abdominal pain. In his past medical history, he had recurrent urinary tract infections, kidney stones and chronic renal failure.  There was no consaguinity between his mother and father.  There were a large number of kidney stones in his family. Increased serum creatinine  and decreased magnesium levels were detected in blood biochemistry.The urinal ultrasonography showed diffuse medullary nephrocalcinosis and multiple stones in both kidneys and ureter. The right ureteral stone causing complete obstruction was removed. Hypercalciuria, hypermagnesuria, and hypocitraturia were detected in his urinary examinations. Eye examination was normal

Results:

 C113Y mutation was detected in the CLDN-16 gene analysis sent by FHNCC. Supportive treatments and potassium citrate was started. 

Conclusions:

 Serum and urine magnesium examinations must be performed in children who are admitted with nephrocalcinosis and / or nephrolithiasis in childhood. In chronic renal diseases with unknown etiology, which are associated with nephrocalcinosis and nephrolitiasis , FHNCC should come to mind.