ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 4 Year: 2023
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Turkish Society for Pediatric Endocrinology and Diabetes
Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2010; 2(4): 173-175 | DOI: 10.4274/jcrpe.v2i4.173

Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism

Leyla Akın1, Selim Kurtoğlu2, Aysel Yıldız2, Mustafa Ali Akın2, Mustafa Kendirici2
1Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
2Department Of Pediatrics, Erciyes University Faculty Of Medicine, Kayseri, Turkey

Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25-hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end-organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels.

Keywords: Vitamin D deficiency rickets,Pseudohypoparathyroidism,antiepileptic drugs

Leyla Akın, Selim Kurtoğlu, Aysel Yıldız, Mustafa Ali Akın, Mustafa Kendirici. Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism. J Clin Res Pediatr Endocrinol. 2010; 2(4): 173-175
Manuscript Language: English
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