Abstract
Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are phosphopenic and calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is the X-linked dominant hypophosphatemic rickets (HR) caused by a mutation in PHEX gene. The FGF23, DMP1, and PHEX are among the most important genes in the etiology of HR disorder. The interaction of these genes is essential for proper bone mineralization. However, the underlying mechanism is not comprehensively known. For data collection, we searched the most recent articles in Science Direct, PubMed and Google Scholar using hypophosphatemia, mutation, PHEX and FGF23 as keywords. The search results revealed that most of the articles have mainly focused on various types of mutations causing hypophosphatemia in different populations. However, there was a lack of enough studies elucidating the interaction of genes involved in this disorder. This review mainly focuses on the various types of phosphopenic rickets and genetic mutations of various agents crucial for bone mineralization and how these mutations exert their effects on biochemical agents like vitamin D and parathyroid hormone (PTH) . It also reviews the available treatment and molecular techniques for managing this disorder.
Highlights
Bone hypophosphatemia is a rare form of hypophosphatemic rickets (HR) that can be seen in either autosomal dominant or sporadic forms
Phosphopenic rickets is found in a variety of sorts; the most common is the X-linked dominant hypophosphatemic rickets (HR) caused by a mutation in PHEX gene
This review mainly focuses on the various types of phosphopenic rickets and genetic mutations of various agents crucial for bone mineralization and how these mutations exert their effects on biochemical agents like vitamin D and parathyroid hormone (PTH)
Summary
Bone hypophosphatemia is a rare form of hypophosphatemic rickets (HR) that can be seen in either autosomal dominant or sporadic forms. Patients are often short in stature with skewed legs (arc shape). They may exhibit features of osteomalacia but with very slight or no variations in growth plates.[1] In contrast, Rickets leads to abnormalities of growth plates and can be seen in long bones. Calcipenic rickets, which is referred to as hypocalcemic and phosphopenic or hypophosphatemic are 2 types of rickets.[3] Hypocalcemic rickets is caused by a lack of calcium, the most common cause of this condition is a lack of vitamin D. Asadzadeh Manjili et al and calcium, absorption of vitamin D, and deformity in bone mineralization.[2,5,6] This review has tried to focus on clinical, biochemical and molecular features of HR.
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