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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [1] [2] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. [1]
The criteria of the World Health Organization are: [13] Normal is a T-score of −1.0 or higher [14] Osteopenia is defined as between −1.0 and −2.5; Osteoporosis is defined as −2.5 or lower, meaning a bone density that is two and a half standard deviations below the mean of a 30-year-old man/woman.
Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene. [ 5 ] [ 6 ] Mutations of PKD1 are associated with most cases of autosomal dominant polycystic kidney disease , a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction.
Thus, according to data gathered by the year 2021, the average delay of diagnosis ranged from 8 [1] to 10 [2] years. According to a consensus guideline on BH 4 deficiency published in 2020, if the presence of AD-GTPCHD is suspected, a genetic assessment should be carried out to look for mutations of the GTPCH1 gene. [2]
It is an official journal of the International Osteoporosis Foundation and the National Osteoporosis Foundation. [3] The journal is published monthly and includes original research on all areas of osteoporosis and its related fields, alongside reviews, educational articles, and case reports. The co-editors-in-chief are J.A. Kanis and F. Cosman.
Senile osteoporosis has been recently recognized as a geriatric syndrome with a particular pathophysiology. There are different classification of osteoporosis: primary, in which bone loss is a result of aging and secondary, in which bone loss occurs from various clinical and lifestyle factors. [1]
[1] [2] [3] The term "renal osteodystrophy" was coined in 1943, [4] 60 years after an association was identified between bone disease and kidney failure. [5] The types of renal osteodystrophy [6] have traditionally been defined on the basis of bone turnover and mineralization: 1) mild, slight increase in turnover and normal mineralization;
Metabolic bone disease is an abnormality of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by deficiencies of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated.