active vitamin d , 1,25-dihydroxyvitamin d [ calcitriol or 1,25(oh)2d ] , is crucial for normal calcium homeostasis . the vitamin d receptor facilitates the downstream biological action of 1,25-dihydroxyvitamin d3 at target tissues . vitamin d receptor is a member of the steroid - thyroidretinoid receptor gene super family of nuclear transcription factors . in humans , heterogeneous mutations in the vitamin d receptor gene cause the rare autosomal recessive genetic disease known as vitamin d - dependent rickets type ii , also known as hereditary vitamin d resistant rickets ( 1 - 3 ) . patients with vitamin d - dependent rickets type ii develop early onset rickets and have hypocalcemia , elevated serum 1,25-dihydroxyvitamin d and secondary hyperparathyroidism ( 4 ) . some patients with vitamin d - dependent rickets type ii have total or partial alopecia and may develop skin lesions or dermal cysts ( 5 ) . the aim of the work was presentation of one case with vitamin d - dependent rickets type ii , treated at the pediatric clinic . for the diagnose the following examinations were used : anamnesis , physical examination , concentration in serum of calcium , phosphates , alkaline phosphatase ( using a photometric method i lab-650 ) , parathyroid hormone ( using radioimmunometric assay ) , 25-hydroxyvitamin d and 1,25- dihydroxyvitamin d was measured by hplc ( high performance liquid chromatography ) which test were done in tirana lab- albania , radiographic examination of the bones , pedigree and karyotype which was done from the peripheral lymphocytes . a female child ( z.h . ) , age 25 months , with the body weight 12 kg ( 25 - 50 percentile ) , height 84 cm ( 10 - 25 percentile ) , head circumference 48 cm ( 50 percentile ) was admitted to hospital in april 2012 due to perspiration , constipation , deformed extremities , walking difficulties , partial alopecia and early convulsions . she was a third child from the fourth pregnancy ; a mother had an abortion during the second month of pregnancy , the parents and other children were healthy and they deny the existence of any hereditary disease ( figure 1 ) . rickets prevention with vitamin d daily dosage 500 iu was done on a regular basis during the first year , whereas during the second year of life patient was not given vitamin d. as an outpatient and in a regional hospital child was treated with ergocalciferol once with attacking doses ( 600.000 iu ) intramuscularly , but without positive results . in physical examination , anterior fontanel was open ( 11 cm ) , the posterior fontanel was closed , the cranial suture were normal and there was mild frontal bossing . she had patches of scalp that were devoid of hair ( partial alopecia ) , while other regions had sparse hair and still other areas had full hair ( figure 2 a ) , during the treatment these changes started to disappear ( figure 2 b ) . the widening of the distal metaphysis of the radius and ulna ( so - called double joints ) was evident ( figure 3 ) also in distal metaphysis of fibula , two maleolli can be seen , so - called marfan s tubercule ( figure 4 ) . the lower extremities looked like the letter x- crura valga rachitica ( figure 5 ) . pedigree of the family of a child with vitamin d dependent rickets , type ii a. partial alopecia before treatment . b. during the treatment new hair started to grow widening of the distal metaphysic of radius and ulna ( so - called double joints ) widening of the distal metaphysic of fibula above fibular maleollus ( so - called marfan s tubercule ) deformities of lower limbs , like the letter x- crura valga rachitica laboratory findings : at presentation , her serum chem - istry panel showed normal values of serum electrolytes , albumin , magnesium and renal function . karyotype ( 46 , xx ) of patient with vitamin d dependent rickets , type ii the calcium value before treatment was low mmol / l ) , also of phosphates 1.30 mmol / l ( reference value 1.4 - 2.1 mmol / l ) , the alkaline phosphatase was quite high in the beginning ( 852 iu / l ) and during treatment it decreased to 142 iu / l ( reference value 50 - 155 iu / l ) . ( 28 g / l ) , 1,25-dihydroxyvitamin d was high ( 185 mol / l- reference value 60 - 108 mol / l ) and the value of parathyroid hormone was high 9.2 pmol / l ( reference value 0.95 - 6.8 pmol / l ) , tab 1 .. laboratory findings in a case with vitamin d - dependent rickets type ii radiographic changes in bone were typical in our case . the specific radiographic changes in the bones of the extremities were expressed in the distal metaphysis of the radius and ulna : the metaphysis is widened and deepened ( gaining a concave shape ) , the line between the epiphysis and metaphysis is not clear ( it appears in a shape of the brush ) . after establishing a diagnosis of the disease we started the treatment with calcium and calcitriol . the patient had a prolonged hospitalization in which she was treated with large amounts of intravenous calcium 50 mg / kg / day , calcitriol 60 ng / kg / day divided into two doses orally . this is the first case with vitamin d - dependent rickets type ii diagnosed in kosovo . two decades ago vitamin d deficiency rickets used to be quite frequent ( 30% ) and it was a public issue , whereas now days thanks to the continuous prevention with vitamin d it decreased considerably to 0.8% . different forms of rickets used to exist even before , but it is evident that a priority in preventive paediatrics in our country was vitamin d deficiency rickets . in spite of continuous prevention of rickets with vitamin d , the patient was treated in the regional hospital with the attacking doses of vitamin d ( ergocalciferol ) , but without any clinical improvements , and that , together with the laboratory results , made us believe that we were dealing with vitamin d - dependent rickets type ii . alopecia is a very common clinical characteristic in cases with vitamin d - dependent rickets type ii . it can be areata and totalis ( in our case it was partial , and after treatment it started to disappear . the authors ( 6 - 9 ) registered in their cases the existence of partial alopecia , whereas the author stojanov presented one case suffering from total alopecia ( 10 ) . radiographic changes and clinical manifestation in bones ( in distal metaphysis of radius and ulna as well as distal metaphysis on tibia and fibula ) were characteristic of rickets in our case . the identical changes in bones appear also in case with vitamin d deficiency rickets , but they do disappear with the giving the therapeutic dosage of vitamin d3 ( 5000 iu / per day ) during the time period of 3 - 5 weeks , whereas in our case the changes started to disappear after three and half months ( after the values of calcium and alkaline phosphatase were brought to normal ) after giving the high dosages of calcitriol and calcium . slow disappearance of radiological changes in bones in line with normalization of other laboratory findings is in favour of diagnosis of vitamin d dependent rickets type ii . the other authors ( 11 , 12 ) stated that the changes in bones were not that much visible in cases with this form of rickets ( because the cases were diagnosed earlier ) and these changes starter to disappear faster ( after the second month ) after use of the corresponding therapy . the initial laboratory findings was suggestive of vitamin d - dependent rickets type ii , but the elevated 1 , 25-dihydroxyvitamin d levels and the severity of rickets both clinically had raised the possibility of a diagnosis of non vitamin d deficiency rickets . values of calcium , alkaline phosphatase , parathyroid hormone and 1 , 25dihydroxyvitamin d in our case started to normalize after the forth month of treatment . several reports describe intravenous calcium therapy to achieve normal calcium levels and healing of rickets . in our case patient was initially treated with 50 mg / kg / day elemental calcium intravenous in time period of 18 hours , to allow at least few hours in the day for child activities . administration of intravenous calcium suppresses parathyroid hormone is again elevated prior to the next infusion . the calcium dose has to be titrated based on serum calcium , phosphates , parathyroid hormone and urine calcium and phosphates excreted . during that time , her alkaline phosphatase levels decreased , her bone pain resolved and she started to demonstrate improved musculoskeletal strength . levels of parathyroid hormone decreased after 120 days of treatment in our patient is more convincing of a dose - related response . large amounts of calcium are necessary to suppress parathyroid hormone secretion in children with vitamin d - dependent rickets type ii . phosphorus supplementation was nor necessary and phosphates were normalized along with suppression of hyperparathyroidism with calcium supplementation . our patient successfully reacted to oral calcium therapy after treatment with intravenous calcium for 3,5 months and demonstrated radiographic signs of healing . currently , frequent administration of oral calcium allows sufficient passive transport through the intestinal wall to achieve serum calcium levels 8mg / dl . other authors ( 13 - 15 ) treated the patients with vitamin d - dependent rickets type ii with high dosage of calcium that was administered orally . only after the vitamin d status was improved with high - dose calcitriol ( 1,25-dihydroxyvitamin d ) 60 ng / kg / day divided into two doses ) did the patients , 1,25-dihydroxyvitamin d level increased to concentrations more typically seen in patients with vitamin d - dependent rickets type ii . this helped to elucidate the patients resistance to active vitamin d and sustained requirement for calcium therapy . vitamin d - dependent rickets type ii , is a rare hereditary autosomal recessive disease due to heterogenous mutations in the vitamin d receptors . clinical manifestations are quite identical with vitamin d - deficiency rickets ( except alopecia and convulsions ) , whereas hypocalcemia and high values of 1,25-dihydroxyvitamin d in serum were characteristic in laboratory findings regarding the vitamin d - dependent rickets type ii . treatment is long lasting followed with giving high doses of calcium and constant dosage of calcitriol .
aim : the aim of this work the report of one case with vitamin d - dependent rickets , type ii.methods:diagnosis has been established based on anamnesis , physical examination , laboratory findings and radiological examination.results:a female child ( age 25 months ) has been hospitalized due to bone deformity , bone pain , alopecia and walking difficulties . 
 the laboratory findings have revealed that the calcium values was low ( 1.20 mmol / l ) , phosphates in the reference value ( 1.30 mmol / l ) the alkaline phosphatase value was quite high ( 852 
 iu / l ) , high value of parathyroid hormone ( 9.21 pmol / l ) , normal value of 25- hydroxyvitamin d , whereas the values of 1,25-dihydroxyvitamin d was high ( 185 mol / l ) . 
 radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of lower limbs ( distal metaphysis of femur and proximal metaphysis of tibia and fibula ) . 
 after treatment with calcium and calcitriol , the above mentioned clinical manifestations , laboratory test values and the radiographic changes in bones withdrew.conclusions:vitamin d - dependent rickets , type ii is a rare genetic recessive disease , and its treatment includes a constant use of calcium and calcitriol .