Definition:
Dent's disease, also known as Dent Disease, is a rare X-linked recessive condition that is hereditary. It affects the Kidney and is one of the many causes of Fanconi syndrome. It is characterized by hypercalciuria, tubular proteinuria, nephrocalcinosis, chronic renal failure and calcium nephrolithiasis. Because it it only associated with the X-chromosome, this disease is most common to males. Studies show that more men (9 out of 15) suffer from this disease compared to women (1 out of ten) at an average age of 47
Diagnosis:
Often times, because it is rare, Dent Disease is diagnosed as idiopathic hypercalciuria. Previous studies however showed that it can best be diagnosed with an analysis of the DNA sequence of CLCN5 gene on the X-chromosome to confirm abnormal mutation.
Treatment:
Until now there has been no proven effective treatment for Dent Disease and most practices are supportive in nature. These are:Thiazide diuretics, Amiloride, employment of Vitamin D for patients with Osteomalacia, and a high citrate diet.
Symptoms and Signs:
Patients with Dent Disease often manifest symptoms such as frequent urination caused by dehydration and extreme thirst, presence of kidney stones and high amount of urine calcium.
Causes:
Dent Disease is caused by abnormal genetic mutations in the kidney chloride channel.
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