TWO DIFFERNT CASES OF RICKETS:
X-LINKED HYPOPHOSPHATEMIC
RICKETS AND VITAMIN D DEPENDENT RICKETS TYPE 2
Ozcelik
G , Hatipoglu S , Erdem E , Urgancı N ,
Ozturk H M , Uslu S
Aim: Two cases of rickets
with different hereditary transmission were reported for early diagnosis
and treatment modalities.
Case 1: A 11-year-old female
patient was admitted because of increase of bowing of her legs that was
noticed when she began to walk.On physical examination there was deformity
of genu varum in her both lower extremities. In laboratory examinations,
serum calcium and magnesium levels were within normal limits whereas serum
phosphorus was 2.6 mg/dl was found to be low. Alkaline phosphatase was 2178
IU/L (3-4 times of normal limits), parathyroid hormone level was normal.
Calcium in 24 hours collected urine was normal, but excretion of phophorus
was increased. The patient was diagnosed as X-linked hereditary
hypophosphatemic rickets when similar physical findings in her father and
sister were united with her clinical, laboratory and radiological findings.
Case 2: A
4-year-old female patient was admitted due to inetrnal angulation of her
lower extremities.On physical examination there was deformity of genu varum
in her left extremity ,rachitic rosaries, erosions in her front teeth and
teeth discoloration . In laboratory examinations calcium was 7.6 mg/dl,
phosphporus was 4.6 pg/dl, 25-hydroxycolecalciferol was 35 ng/dl (10-40
ng/dl) and 1,25-dihydroxycholecalciferol was 620 ng/dl (35-90 ng/dl).Urine
analysis and arterial blood gas analysis were within normal limits. The
patient was diagnosed as vitamin D dependent rickets type 2 due to
hypocalcemia, normal phosphorus level , increased alkalen phosphatase,
increased 1,25-dihydroxycholecalciferol and normal
25-hydroxycholecalciferol levels.
As a
result,
early diagnosis and treatment of hereditary transmitted rickets cases are
very important in prognosis of disease in our country where nutritional
rickets is very common.