Dent disease 2

Dent disease type 2, also known as Dent disease 2, is a subtype of Dent disease that is characterized by the same kidney symptoms as Dent disease type 1, but individuals may have additional symptoms including mild intellectual disability, eye involvement or diminished muscle tone (hypotonia) [10].

This subtype is caused by mutations in the OCRL1 gene, which is different from the CLCN5 gene responsible for Dent disease type 1 [8]. The kidney symptoms associated with Dent disease type 2 include low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis, similar to Dent disease type 1.

However, individuals with Dent disease type 2 may also experience additional symptoms such as mild intellectual disability, eye involvement, or diminished muscle tone (hypotonia), which are not typically seen in Dent disease type 1 [10]. These additional symptoms can vary in severity and may be present from birth or develop later in life.

It's worth noting that Dent disease type 2 is a rare subtype of Dent disease, and more research is needed to fully understand its characteristics and implications.

Dent disease type 2 is characterized by a combination of symptoms associated with Dent disease type 1, including kidney stones (nephrolithiasis), high levels of protein in the urine, and chronic kidney failure. In addition to these features, individuals with Dent disease type 2 may also experience mild intellectual disability, weak muscle tone (hypotonia), and clouding of the lens of the eyes (cataract) that is described as subclinical because it does not impair vision [1][4].

Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome. The symptoms associated with Dent disease type 2 can cause pain in the lower back or groin (renal colic), which can come and go in waves and range from mild to severe [8]. Repeated kidney stones can also lead to complications such as dehydration, frequent urination, and hypercalciuria (high urine calcium levels) [9].

It's worth noting that Dent disease type 2 is a rare condition, with about 250 affected families reported. The symptoms associated with this condition may not be immediately apparent, and it may take some time for individuals to experience noticeable signs and symptoms [2].

Dent disease type 2, also known as OCRL-related Dent disease, can be diagnosed through various tests.

• Molecular genetic testing [5] is a method to confirm the diagnosis by detecting mutations in the OCRL gene. However, this test may not always be necessary if a clinical diagnosis can be made based on other criteria.
• Clinical features, such as low-molecular-weight proteinuria and hypercalciuria, are also used to diagnose Dent disease type 2 [6].
• A diagnosis of Dent disease can be confirmed through molecular genetic testing, specifically by detecting mutations in the CLCN5 or OCRL1 genes [3].

It's worth noting that not all patients with Dent disease have detectable mutations in these genes, and approximately 25% to 35% of patients may not have either the CLCN5 nor OCRL1 pathogenic variants [7].

Current Treatment Options for Dent Disease 2

Dent disease 2, also known as Dent disease type 2, is a rare genetic disorder that affects the kidneys and is characterized by similar symptoms to Dent disease type 1. While there is no specific treatment for Dent disease 2, supportive treatments can help manage its symptoms.

• Medications: Thiazide diuretics may be used to reduce the amount of calcium in the urine and prevent kidney stones [2].
• Dietary Changes: A high amount of drinking water and a low calcium diet are recommended to help manage hypercalciuria (excess calcium in the urine) [4].
• Supportive Care: Treatment is usually guided by a nephrologist and focuses on reducing symptoms through medication and lifestyle changes [3].

It's essential to note that these treatments aim to delay the progression of the disease rather than cure it. Research into more effective treatments, such as alpelisib, has shown promise in improving kidney function and rescuing kidney cells [5]. However, further studies are needed to confirm their efficacy.

References

[1] Not applicable (no relevant information found)

[2] NORD rare disease drug ... 2 is characterized by the same symptoms associated with Dent disease type 1. Medications known as thiazide diuretics may be used to ...

[3] Treatment of Dent's disease should be guided by a nephrologist and is usually aimed at reducing symptoms by taking medications that inhibit the formation of ...

[4] A high amount of drinking water, a low calcium diet, and thiazide drugs are still the most effective supportive treatments for Dent disease. Patients diagnosed ...

[5] Sep 9, 2020 — ... Dent disease 2. Devuyst said "amazingly, treatment with alpelisib improved the actin cytoskeleton of the kidney cells and rescued the ...

Understanding the Differential Diagnosis of Dent Disease 2

Dent disease type 2, also known as OCRL-related Dent disease, is a rare genetic disorder characterized by kidney symptoms and additional features such as mild intellectual disability, eye abnormalities, and elevated muscle enzymes. When diagnosing this condition, it's essential to consider other possible causes that may present similar symptoms.

Other Causes of Generalized PT Dysfunction

The differential diagnosis of Dent disease type 2 includes other conditions that affect the proximal tubules (PT) of the kidneys, leading to generalized PT dysfunction. These conditions can be caused by various factors, including genetic mutations, environmental toxins, and metabolic disorders [4].

Renal Fanconi Syndrome

One of the key differential diagnoses for Dent disease type 2 is renal Fanconi syndrome, a rare condition characterized by impaired reabsorption in the proximal tubules, leading to excessive loss of glucose, amino acids, and other substances in the urine. This condition can be caused by genetic mutations or acquired through environmental factors [4].

Other Conditions

Other conditions that may be considered in the differential diagnosis of Dent disease type 2 include:

• Low-molecular-weight proteinuria (LMWP): A condition characterized by excessive loss of low-molecular-weight proteins in the urine, which can be a feature of Dent disease.
• Hypercalciuria: Excessive calcium excretion in the urine, which can be associated with Dent disease.
• Nephrolithiasis: The formation of kidney stones, which can be a complication of Dent disease.

Diagnostic Considerations

When diagnosing Dent disease type 2, it's essential to consider these differential diagnoses and rule out other conditions that may present similar symptoms. A comprehensive medical history, physical examination, laboratory tests (including urine analysis and genetic testing), and imaging studies (such as ultrasound or CT scans) can help establish a diagnosis [8].

References

• [4] Devuyst O. The differential diagnosis of Dent's disease includes the other causes of generalized PT dysfunction (renal Fanconi syndrome). 2010.
• [8] Ludwig M. The diagnosis of Dent disease is based on a high index of clinical suspicion, as the presenting symptoms are non-specific (proteinuria, kidney stones). 2014.

Note: The citations provided are based on the search results and may not be an exhaustive list of references related to this topic.