Dent Disease – Symptoms, Treatment, and Prevention
You have probably heard about Dent disease, but you may not know the symptoms or the treatment for this condition. This article will discuss the symptoms, treatment, and prevention of Dent disease. You can use the information to make an informed decision regarding your oral health. The best way to prevent Dent disease is to maintain a regular oral hygiene routine.
Dent disease
Dent disease is a rare X-linked recessive disorder that typically manifests in childhood or early adulthood. It is present in both males and females and affects about 10% of individuals. It is characterized by abnormal tubular function, nephrocalcinosis, and hypercalciuria. Patients with this disorder also tend to develop osteomalacia and hypophosphatemic rickets. There are several different types of this disease, each with varying symptoms.
Patients with Dent disease may have abnormalities in the function of the PT-Ros-G-C complex. This protein is required for the degradative endocytosis of filtered proteins in the proximal tubule. This enzyme requires an electrical shunt, which is provided by ClC-5. Lack of this protein impairs vesicular acidification, which ultimately leads to PT cell dysfunction.
Genetic studies have found that a small number of patients with Dent’s disease have mutations in the CLCN5 gene. However, this doesn’t account for most cases. Genetic analysis has also revealed a second gene, OCRL1, that is associated with the disease. The discovery of this gene led to a reassessment of diagnostic criteria for Dent’s disease.
Proteinuria is the most common symptom of Dent disease. It occurs in about one in every two patients with the disorder. Patients with hematuria may also have nephrolithiasis or glomerulonephritis. If hematuria is accompanied by proteinuria, it may be indicative of glomerulonephritis. Occasionally, patients with Dent disease may have a renal biopsy to rule out glomerulonephritis.
Other symptoms of Dent disease include calcium deposits in the kidneys and kidney stones. These deposits can lead to abdominal pain and blood in the urine. If left untreated, the disease can progress to end-stage renal failure, which can be fatal. If the symptoms do not get better, a dialysis or kidney transplant may be recommended.
The CLCN5 gene has been implicated in Dent disease. A mutation in this gene can lead to hypercalciuria.
Symptoms
Symptoms of dis dent depend on the cause and severity of the condition. In some cases, genetics may play a role in the onset of dis dent. For example, if a parent has the condition, then their child is more likely to get it, while in other cases it can develop spontaneously during pregnancy.
While dis dent is most commonly caused by trauma or the baby’s position in the womb, it can also be caused by a disease. Certain genetic syndromes, such as Pfeiffer and Apert syndromes, can cause this. As a result, it’s important to see a doctor if you suspect your child has a dis dent.
Some symptoms of dis dent include abnormally large proteins in the urine and calcium deposits in the kidneys. Blood and abdominal pain are also common. If left untreated, dis dent can progress to end-stage renal disease in early to mid-adulthood, which is a life-threatening condition.
Treatment
Dis dent treatment may be needed if you or a family member suffers from the condition. The disease causes abnormal proteins in the urine. It can also lead to kidney stones, calcium deposits, and abdominal pain. Eventually, patients may progress to end-stage renal disease, which is a life-threatening condition.
Patients with Dent’s disease may not have mutations in the CLCN5 or OCRL1. Treatment for this disease focuses on the prevention of nephrolithiasis and hypercalciuria. Treatment for hypercalciuria may include the use of thiazide diuretics.