In children with rickets, osteoid fails to mineralize. This condition is sometimes accompanied by a vitamin D deficiency or drop in blood phosphate levels, which causes hypophosphatemia. case report describes 4-year-old youngster persistent respiratory conditions since he was nine months old. At an outpatient tubulopathies clinic, throughout 24-month study, information on the patient's metaboli...

OBJECTIVE Hypophosphatemic rickets is an uncommon metabolic bone disorder which affects all ages and both sexes. It is characterized by low concentration of serum phosphate levels, impairment of mineralization of bone matrix and teeth with variable etiology. Dental problems in this disorder have not been described well in previous studies. METHODS All hypophosphatemic rickets patients who cam...

Hereditary hypophosphatemic rickets (HHR) is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. Here, we report a case of an active 25-year-old male with HHR showing atraumatic bilateral femoral neck pseudarthrosis after 4 years of consecutive knee pain. A conservative therapy was administered, taking into account both the risks of surgical treatment and t...

Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria. The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term followup of a ...

At Ataturk University Hospital, eight infants who presented with hypocalcaemic seizures were subsequently found to have rickets. Their mothers had osteomalacia. Neither mothers nor infants received vitamin D supplementation. Maternal vitamin D deficiency and non-supplementation in the infants were causes of rickets in these patients. It is recommended that neonatal hypocalcaemia may be due to m...

X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T...

X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate an...

Phosphorus is a critical element in skeletal development, bone mineralization, membrane composition, nucleotide structure, and cellular signaling. Similar to calcium, the serum phosphorus level is maintained within a narrow range through a complex interplay between intestinal absorption, exchange with intracellular and bone storage pools, and renal tubular reabsorption. The principal organ that...