ESPN 51th Annual Meeting

ESPN 2018


 
THE CO-EX─░STENCE OF TWO RARE D─░SEASES: A CASE REPORT
MEHTAP SAK 1 TARIK KIRKGOZ 2 IBRAHIM GOKCE 1 NESLIHAN CICEK 1 PINAR ATA 3 SERAP TURAN 2 NURDAN YILDIZ 1 HARIKA ALPAY 1

1- MARMARA UNIVERSITY MEDICAL SCHOOL DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- MARMARA UNIVERSITY MEDICAL SCHOOL DEPARTMENT OF PEDIATRIC ENDOCRINOLOGY
3- MARMARA UNIVERSITY MEDICAL SCHOOL DEPARTMENT OF MEDICAL GENETICS
 
Introduction:

 Gitelman sydrome (GS) is an autosomal recessive, distal tubuler disease, characterised by hypokalemic metabolic alkalosis, hypomagnesemia, low urinary calcium exretion. GS has a prevelance about 1:40000. Achondroplasia is an autosomal dominant  disease and it is the most frequent form of skeletal dysplasia with the prevelance of 1:10000 to 1:50000.  Here, we report a case who was diagnosed as GS and achondroplasia.

Material and methods:

 Case

Results:

 A 3-year-old boy was admitted to hospital with vomiting. Physical examination showed disproportionately short stature, rhizomelic shortening of arms and legs, lumbar lordosis, long face, frontal bossing and saddle nose and he had normal intelligence. Blood pressure was 100/60 mmHg. Laboratory findings revealed hypokalemia (K:2.6 mg/dl), hypomagnesemia (Mg:1.1 mg/dl), metabolic alkalosis (ph:7.53, HCO3:35mmol/L) and hyperreninemic hyperaldosteronism. Complete blood count, renal function tests and urinalysis were normal. Twenty-four-hour urinary calcium excretion was low and abdominal ultrasound was normal. He was diagnosed as GS and a heterozygous mutation of p.Gly463Glu (c.1388 G>A) in the SLC12A3 gene, which supports the diagnosis of GS was detected. He was also diagnosed as achondroplasia and hypothyroidism by endocrinology department. A heterozygous mutation of G380R (c.1138G>A) in the FGFR3 gene, which supports the diagnosis of achondroplasia was detected.

Conclusions:

 The coexistence of rare diseases is very infrequent, GS and achondroplasia co-existence was not reported before. This case is presented to draw attention to the rare association of these two diseases.