The topic X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets you are seeking is a synonym, or alternative name, or is closely related to the medical condition Dent Disease.

Quick Summary:

• Dent Disease is a rare genetic disorder that predominantly affects males with a general onset during childhood. It is caused by mutation(s) in two genes, namely the CLCN5 gene and the OCRL gene
• There are two variations of Dent Disease based on the causative genes of the condition. These include:
  • Type 1 Dent Disease: It is caused by CLCN5 mutation, and accounts for approximately 60% of the reported cases
  • Type 2 Dent Disease: It is observed in 15% of all cases, and is caused by mutation(s) in the OCRL gene
  • In about 25% of cases, the genetic cause is not known, and the risk factors remain indeterminate
• The CLCN5 and OCRL genes are involved in reabsorption of minerals and nutrients from the proximal tubules in the nephrons (the kidney’s basic functional unit). Gene mutations and aberrant gene products can cause reduced reabsorption of minerals and nutrients, which can lead to the symptoms of Dent Disease
• Dent Disease is an X-linked recessive disorder, and so having a mother who is a “carrier” of Dent Disease is a major risk factor for developing the condition. It is believed that many individuals with this condition may go undiagnosed, owing to symptoms being mild or overlapping with other kidney disorders
• The signs and symptoms generally affect the function of kidneys and may cause increased low-molecular weight protein, calcium, and amino acids to be passed through urine. Other symptoms can include the presence of kidney stones and chronic kidney disease. In individuals with Type 2 Dent Disease, the brain and eyes may be affected as well leading to intellectual impairment and cataracts
• Dent Disease is diagnosed through a physical examination, assessment of symptoms, evaluation of family history, urine tests, imaging tests of the abdomen, and kidney biopsy (if required)
• Progressive dysfunction of the kidneys, chronic kidney disease, and end-stage renal disease are some of the potential complications associated with Dent Disease
• Dent Disease is a genetic condition that cannot be cured. However, there are treatment options available to treat individual symptoms and delay kidney disease progression. These may include the use of thiazide and amiloride diuretics, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARB), growth hormone treatment for children with delayed growth, vitamin D supplementation, and dietary modifications
• The prognosis of Dent Disease is generally considered to be good. However, many affected males (over 50% of them) in their 30s-50s develop end-stage renal disease, which complicates the prognosis

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