A 64-year-old female with long-standing end-stage renal disease (ESRD), (3) status post 2 failed renal transplants, was evaluated for management of renal osteodystrophy
with particular concern for adynamic bone disease (ABD).
It was then that we proceeded with collecting the Vitamin D 11.5ng/dl (normal range 2575ng/dl), Calcium 6.9 mg/dl(8.5-10.5 mg/dl), Phosphorous 8.6 mg/dl (2.8-5 mg/dl), Alkaline phosphatase 769 U/litre (30-135 U/litre) and Parathyroid Hormone 46.2 pg/ml (8.8-76.6 pg/ml) levels and finally arrived at the conclusion that the patient was a case of Renal Osteodystrophy
(low turnover type).
has traditionally been the most commonly cited morbidity associated with CKD-MBD.
commonly results in bone pain and fractures, both of which increase in frequency and severity as CKD progresses.
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
. J Clin Endocrinol Metab 2007;92:2370-3.
A 22-year-old woman with hypocalcemia and clinical features of Albright hereditary osteodystrophy
diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay.
PHP type 1a is characterized by the expression of the Gs[alpha] isoform only of the paternal GNAS gene, with resistance to other hormones rather than PTH and by the phenotype of Albright's hereditary osteodystrophy
(AHO) with round facies, short stature, obesity, subcutaneous ossifications, brachydactyly, and in some cases mental retardation [3-5].
X-ray of the maxilla and mandible showed diffused decreasing bone density and multiple lytic lesion, which suggest metabolic bone disease or renal osteodystrophy
or hyperparathyroidism (Figure 6).
Other entities associating ectodermal and skeletal phenotypes were reviewed, particularly Albright osteodystrophy
, acrodysostosis, and other brachydactyly syndromes, but several features of the presentation were inconsistent with these diagnoses.
is defined by the abnormalities of bone turnover, mineralization, and microarchitecture that affect CKD patients.
Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses and hypertrophic osteodystrophy
. Veterinary Clinics of North America: Small Animal Practice 13, 55-70.