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Dent disease
ICD-10 Codes
Related ICD-10:
Description
Dent Disease: A Rare X-linked Kidney Disorder
Dent disease is a rare and chronic kidney disorder that primarily affects males. It is characterized by the malfunctioning of the proximal renal tubules, leading to various complications.
- Proximal Tubule Dysfunction: The condition results from damage to the structures responsible for reabsorbing low-molecular-weight proteins, calcium, and other essential substances in the kidneys [1][2].
- Low Molecular Weight Proteinuria: One of the hallmark symptoms of Dent disease is the presence of low molecular weight proteinuria, which indicates an abnormal loss of these proteins in the urine [3][4].
- Hypercalciuria: The condition often leads to hypercalciuria, a condition characterized by excessive calcium levels in the urine [5].
- Kidney Stones and Failure: If left untreated, Dent disease can lead to the development of kidney stones and eventually kidney failure [6].
Key Facts
- Dent disease is an X-linked recessive disorder, meaning it primarily affects males due to their single X chromosome.
- The condition is rare and has a significant impact on affected individuals.
- Early diagnosis and treatment are crucial in managing the symptoms and preventing long-term complications.
References:
[1] Sep 1, 2012 — Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures ...
[2] by JC Lieske · 2017 · Cited by 36 — Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at ...
[3] by O Devuyst · 2010 · Cited by 276 — Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, ...
[4] by SJ Scheinman · Cited by 2 — INTRODUCTION. Dent disease is an X-linked recessive disorder of the proximal tubules that is characterized by low-molecular-weight ...
[5] by O Devuyst · 2010 · Cited by 275 — Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, ...
[6] A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) ...
Additional Characteristics
- Dent disease is a rare and chronic kidney disorder that primarily affects males.
- The condition results from damage to the structures responsible for reabsorbing low-molecular-weight proteins, calcium, and other essential substances in the kidneys.
- One of the hallmark symptoms of Dent disease is the presence of low molecular weight proteinuria, which indicates an abnormal loss of these proteins in the urine.
- The condition often leads to hypercalciuria, a condition characterized by excessive calcium levels in the urine.
- If left untreated, Dent disease can lead to the development of kidney stones and eventually kidney failure.
Signs and Symptoms
Dent disease is a rare congenital kidney disorder that can cause a range of symptoms, including:
- Kidney stones: These can cause pain in the lower back or groin (renal colic), which can come and go in waves and range from mild to severe [3].
- Tubular proteinuria: This is an abnormally large amount of proteins in the urine, which is often one of the first signs of Dent disease [4].
- Fanconi syndrome: This can cause symptoms such as polyuria (frequent urination), poor growth, and rickets [2, 8].
- Chronic kidney failure: In severe cases, Dent disease can lead to chronic kidney failure [5, 7, 8].
- Mild intellectual disability: Some people with Dent disease may also experience mild intellectual disability [1].
- Weak muscle tone (hypotonia): This is another possible symptom of Dent disease [1].
- Clouding of the lens of the eyes: In some cases, Dent disease can cause clouding of the lens of the eyes [1].
It's worth noting that the severity and range of symptoms can vary widely from person to person, even within the same family [9].
Additional Symptoms
- Kidney stones
- Mild intellectual disability
- Weak muscle tone (hypotonia)
- Fanconi syndrome
- Chronic kidney failure
- Clouding of the lens of the eyes
- proteinuria
Diagnostic Tests
Dent disease is a rare genetic kidney disorder, and its diagnosis involves several diagnostic tests.
Key Diagnostic Features
- Low-molecular-weight proteinuria: The presence of abnormally large amounts of proteins in the urine (tubular proteinuria) is a frequent sign of Dent disease [4].
- Hypercalciuria: Increased levels of calcium in the urine are also associated with Dent disease [2].
- Other biological, radiological, and clinical features: In addition to low-molecular-weight proteinuria and hypercalciuria, other signs may include kidney stones, nephrocalcinosis (calcium deposits in the kidneys), and impaired renal function [3].
Diagnostic Criteria
To diagnose Dent disease, all three of the following criteria must be met:
- Low-molecular-weight proteinuria
- Hypercalciuria
- At least one of the following:
- Nephrocalcinosis
- Kidney stones
- Impaired renal function [5]
Genetic Testing
Molecular genetic testing can confirm the diagnosis by identifying pathogenic variants in either CLCN5 or OCRL1 genes, which are associated with Dent disease [7]. However, it's worth noting that approximately 25-35% of patients may not have these pathogenic variants [9].
These diagnostic tests and criteria help establish a diagnosis of Dent disease.
Additional Diagnostic Tests
- Hypercalciuria
- Kidney stones
- Low-molecular-weight proteinuria
- Nephrocalcinosis
- Impaired renal function
- Genetic testing for CLCN5 or OCRL1 genes
Treatment
Treatment Options for Dent Disease
Dent disease, a rare genetic disorder affecting the kidneys and bones, requires careful management to alleviate symptoms and slow disease progression. While there is no specific treatment for Dent disease, various medications can help reduce symptoms and improve quality of life.
- Thiazide diuretics: These medications [5] help decrease hypercalciuria (excessive calcium in urine) by acting on the kidneys. They are often used to manage kidney stones and nephrocalcinosis.
- Potassium and phosphate supplementation: As Dent's disease is characterized by tubular losses of important minerals like potassium, supplements can help maintain normal mineral levels [4].
- Vitamin D supplements: Vitamin D can help regulate calcium levels in the body, which may be beneficial for individuals with Dent disease [6].
- Angiotensin-converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB): These medications are used to treat proteinuria (excess proteins in urine), a common symptom of Dent disease [7].
Experimental Treatments
Research has explored other potential treatments for Dent disease, including:
- Sodium 4-phenylbutyrate: A small chemical chaperone that may help alleviate symptoms in mouse models of the disease [2].
- Citrate supplementation: High citrate diets or supplements might delay progression of renal disease in individuals with Dent disease [8].
Emerging Therapies
Recent studies have investigated new treatment options, such as:
- Alpelisib: A medication that improved the actin cytoskeleton of kidney cells and rescued function in mouse models of Dent disease [9].
It is essential to consult a healthcare professional for personalized guidance on managing Dent disease. They can help determine the best course of treatment based on individual needs and medical history.
References: [1] NORD rare disease drug development ad. [2] by A Perdomo-Ramírez · 2024 [3] by JC Lieske · 2017 [4] Drug Treatment. Potassium and phosphate supplementation. [5] Thiazide diuretics are medications that help reduce the amount of calcium excreted in urine by acting on the kidneys. [6] There is no specific treatment for Dent disease, so management is aimed at reducing symptoms to improve quality of life. Vitamin D supplements can help to ... [7] by EM Yang · 2023 [8] Experimental data in Dent 1 disease suggest that long-term treatment with a high citrate diet or supplementation with citrate might delay progression of renal ... [9] Sep 9, 2020
Recommended Medications
- Angiotensin-converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB)
- Alpelisib
- vitamin A
- Vitamin A
- Sodium
- sodium atom
- Citrate
- citrate anion
- thiazide
- potassium phosphate
- potassium dihydrogen phosphate
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of Dent disease includes other causes of proximal tubular dysfunction, such as Renal Fanconi syndrome [1]. Additionally, Dent disease type 2 is characterized by the same kidney symptoms, but individuals may have additional symptoms including mild intellectual disability, eye abnormalities, and other systemic manifestations [2].
Other conditions that should be considered in the differential diagnosis of Dent disease include:
- Hereditary nephropathies, such as Alport syndrome
- Other causes of low molecular weight proteinuria and Fanconi syndrome
- X-linked recessive disorders, such as Dent-Wrong disease
- Generalized dysfunction of the proximal tubules
It's worth noting that the diagnosis of Dent disease is based on the presence of LMW proteinuria, which is associated in the majority of cases with hypercalciuria and other biological, radiological, and clinical manifestations [4]. A comprehensive evaluation of the patient's medical history, physical examination, laboratory results, and imaging studies is necessary to establish an accurate diagnosis.
References: [1] JC Lieske · 2017 [2] Dent disease type 2 [3] Sep 1, 2012 [4] by O Devuyst · 2010
Additional Differential Diagnoses
- Renal Fanconi syndrome
- Hereditary nephropathies (Alport syndrome)
- X-linked recessive disorders (Dent-Wright disease)
- Generalized dysfunction of the proximal tubules
- primary hypomagnesemia
- renal hypomagnesemia 2
- X-linked recessive disease
- oculocerebrorenal syndrome
- cystinosis
Additional Information
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