ESPN 51th Annual Meeting

ESPN 2018


 
Late diagnosis of renal fanconi sydrome with HNF4A mutation in child with hypophospatemic rickets
ATILLA GEMICI 1 BAHRIYE ATMIS 1 AYŞE CEREN AKAY 2 OĞUZHAN YARALI 3 ATILLA ÇAYIR 4

1- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRICS
3- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF MEDICAL GENETICS
4- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRIC ENDOCRINOLOGY
 
Introduction:

 Rare diseases have been diagnosed by the developments in genetic science in recent years and entering the literature may show different course before the clinical characteristics expected and experienced so far. This can cause a difficulty diagnosis in cases of rare diseases that are already rarely diagnosed.

Material and methods:

We presented a 13 years old girl with renal fanconi syndrome.

Results:

 At the age of three, patient applied to another center with the complaint of developing curvature in the legs after starting to walk for about 1 year. The patient was diagnosed with hypophosphatemic rickets for the reason that high levels of alkaline phosphatase, hypophosphatemia, hyperparathyroidism and normal levels of 25-OHVitD.  This case, which was followed for 10 years with hypophosphatemic rickets, was directed to our outpatient clinic for the detection of proteinuria and glucosuria by pediatric endocrinology. When the patient was reevaluated, metabolic acidosis, generalized aminoaciduria and low tubular phosphorus reabsorption were detected and the patient was diagnosed with proximal tubular acidosis (renal fanconi syndrome). Genetic analysis of this patient revelaed that heterozygous pathogenic varyant c.253C>Tp.(Arg85Trp) at HNF4A gene. 

Conclusions:

  A heterozygous pathogenic mutation was found in the HNF4A gene analysis in this case, absence of clinical hypoglycemia is an unusual finding of this phenomenon.