Resistance to Vitamin D or Parathyroid Hormone

Patients with confirmed or suspected conditions with a resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis and treatment, and inclusion in other studies pertaining to similar conditions.

This study will provide information about problems relating to calcium in the blood, urine, and bones. Patients in this study will undergo a general evaluation / check-up to give researchers an idea of each person’s condition or disease. Patients will receive treatment based on their diagnosis and asked to provide specimen samples for further research studies.

Official Title

Studies of States with Resistance to Vitamin D and Parathyroid Hormone

Conditions

– Hypocalcemia- Osteomalacia- Pseudohypoparathyroidism- Pseudo-pseudohypoparathyroidism- Rickets

Study Type

Observational

Study Design

Natural History

Further Details

Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis and treatment and for inclusion in other protocols. These states include hypocalcemia, rickets, osteomalacia, pseudohypoparathyroidism. Resistance to a factor is manifested by deficient bioeffect despite high levels of the factor in blood. Patients will be tested with multiple indices of mineral metabolism to establish the diagnosis and examine the spectrum of the underlying disorder. The principal therapies will be combinations of calcium, phosphate, and a vitamin D analog. Selected patients will have localization and surgery to remove a tumor that causes renal wasting of phosphate. Patients will also undergo research tests which may include skin biopsy or apheresis and will be considered for entry into other protocols

Study Start

Eligibility & Criteria

Genders Eligible for Study: Both Criteria INCLUSION CRITERIAPatients of any age or sex with vitamin D resistance, rickets, osteomalacia, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, or suspicion of these or related disorders based upon the appropriateness of their problem to ongoing investigations.Current investigations are focused primarily upon subjects with target tissue resistance to 1,25-dihydroxyvitamin D, pseudohypoparathyroidism, and pseudo-pseudohypoparathyroidism.

Total Enrolment

9999

Contact Details

[1] National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)