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hypoparathyroidism-deafness-renal disease syndrome
Description
Hypoparathyroidism-Deafness-Renal Disease (HDR) Syndrome Description
HDR syndrome, also known as Hypoparathyroidism, Deafness and Renal dysplasia syndrome, is a rare genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. This condition is caused by haploinsufficiency of the GATA3 gene [6].
The clinical spectrum of HDR syndrome includes varying degrees of hypoparathyroidism, which occurs in about 93% of patients [4]. Deafness is the most consistent feature of the syndrome, occurring in approximately 96% of patients [4]. Renal disease is also a common feature, although its severity can vary.
HDR syndrome is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. The symptoms and age of onset can be variable, making diagnosis challenging [3].
The syndrome is characterized by:
- Hypoparathyroidism: A rare condition where the parathyroid glands do not produce enough parathyroid hormone, leading to low calcium levels in the blood.
- Sensorineural deafness: A type of hearing loss caused by damage to the inner ear or the nerve pathways that transmit sound signals to the brain.
- Renal disease: Abnormalities in the kidneys, which can lead to kidney failure if left untreated.
HDR syndrome is a rare and complex condition, and its diagnosis requires a comprehensive evaluation by a multidisciplinary team of healthcare professionals.
Additional Characteristics
- Hypoparathyroidism
- Sensorineural deafness
- Renal disease
Signs and Symptoms
Hypoparathyroidism-deafness-renal disease syndrome (HDR syndrome), also known as Barakat syndrome, is a rare genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. The clinical manifestations of this syndrome can vary widely among affected individuals.
Common Signs and Symptoms:
- Hypoparathyroidism: This condition is characterized by low levels of parathyroid hormone (PTH), which regulates calcium levels in the blood. Symptoms may include:
- Muscle cramps [6]
- Weakness [6]
- Excessive nervousness [6]
- Headaches [6]
- Uncontrollable muscle contractions [6]
- Sensorineural Deafness: This is the most consistently expressed clinical feature of HDR syndrome, affecting almost all affected individuals. It is characterized by early onset and moderate to severe sensorineural hearing loss [1][9].
- Renal Disease: Renal anomalies are a common feature of HDR syndrome, with symptoms ranging from mild to severe kidney dysfunction.
Other Possible Symptoms:
- Hypocalcemia (low calcium levels in the blood) can cause a variety of symptoms, including muscle cramps, weakness, and excessive nervousness [6].
- Myalgia (muscle pain) and sensory
Additional Symptoms
- Hypoparathyroidism
- Hypocalcemia
- Headaches
- Muscle cramps
- Sensory loss
- Excessive nervousness
- Uncontrollable muscle contractions
- deafness
- weakness
- obsolete myalgia
Diagnostic Tests
Diagnostic Tests for Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome (HDR syndrome) is a rare genetic disorder that requires a comprehensive diagnostic approach. The following tests can help confirm the diagnosis:
- GATA3 genetic testing: This test should be performed in patients with unexplained sensorineural deafness or renal disease, especially those with a positive family history [1]. GATA3 haploinsufficiency is the most common cause of HDR syndrome.
- Complete hemogram, liver function tests, serum electrolytes, blood sugar, and arterial blood gas analysis: These tests can help rule out other conditions that may present with similar symptoms [7].
- Hormonal assays: In some cases, hormonal assays may be necessary to evaluate the function of the parathyroid glands and other endocrine organs.
- Imaging studies: Imaging studies such as ultrasound or CT scans may be used to evaluate the kidneys and other affected organs.
Diagnostic Criteria
The diagnosis of HDR syndrome is based on the presence of the triad of hypoparathyroidism, sensorineural deafness, and renal disease. The diagnostic criteria include:
- Hypoparathyroidism: Characterized by low calcium levels (hypocalcemia) and high phosphate levels (hyperphosphatemia).
- Sensorineural deafness: A type of hearing loss that affects the inner ear.
- Renal disease: Involving renal dysplasia or other kidney abnormalities.
Specialist Referrals
A diagnosis of HDR syndrome should be made by a multidisciplinary team of specialists, including:
- Endocrinologists: To evaluate and manage hypoparathyroidism
Additional Diagnostic Tests
- GATA3 genetic testing
- Complete hemogram, liver function tests, serum electrolytes, blood sugar, and arterial blood gas analysis
- Hormonal assays
- Imaging studies (ultrasound or CT scans)
Treatment
Treatment Overview
Hypoparathyroidism-deafness-renal disease syndrome, also known as HDR syndrome or Barakat syndrome, is a rare genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. The treatment approach for this condition involves managing its various components.
Hypoparathyroidism Treatment
The primary goal in treating hypoparathyroidism is to correct the associated hypocalcemia (low calcium levels) by administering calcium and vitamin D supplements [3]. Recombinant parathyroid hormone (PTH) may also be used to treat hypoparathyroidism, especially in cases where there is a significant deficiency of PTH [6].
Renal Disease Treatment
The treatment for renal disease associated with HDR syndrome depends on the severity and progression of the condition. In some cases, patients may require renal replacement therapy due to chronic kidney failure [5]. However, specific treatment plans should be individualized based on clinical abnormalities and disease severity [8].
General Management
A comprehensive treatment plan for HDR syndrome involves addressing all three components of the disorder: hypoparathyroidism, sensorineural deafness, and renal disease. This may include a multidisciplinary approach involving endocrinologists, nephrologists, audiologists, and other specialists.
References
- [3] Gandolfi A (2023) - Elemental calcium 30 to 75 mg/kg/day and calcitriol 0.02 to 0.06 mcg/kg/day are recommended for treating hypoparathyroidism.
- [5] Joseph ADD (2019) - Most patients with HDR syndrome show progression to chronic renal failure, often requiring renal replacement therapy.
- [6] Gandolfi A (2023) - Recombinant PTH may be used to treat hypoparathyroidism in cases of significant deficiency.
- [8] Chetiwal R (2024) - Treatment for HDR syndrome should be individualized based on clinical abnormalities and disease severity.
Recommended Medications
- Renal replacement therapy
- vitamin A
- Vitamin A
- Calcium
- calcium atom
- hormone
💊 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
Understanding Differential Diagnosis in HDR Syndrome
The differential diagnosis for Hypoparathyroidism, Deafness, and Renal (HDR) syndrome is crucial to accurately diagnose the condition. According to medical literature [2][6], it is essential to consider Barakat syndrome as a differential diagnosis in patients with isolated sensorineural deafness or renal disease.
Key Considerations
- Barakat Syndrome: This rare genetic disorder shares similar symptoms with HDR syndrome, including hypoparathyroidism, deafness, and renal abnormalities [2][6].
- GATA3 Gene Mutations: HDR syndrome is caused by mutations in the GATA3 gene on chromosome 10p14. These mutations lead to haploinsufficiency of the GATA3 protein, resulting in the characteristic symptoms of the condition [1][4].
Differential Diagnosis Process
When diagnosing HDR syndrome, clinicians must consider other conditions that may present with similar symptoms. This includes:
- Barakat Syndrome: As mentioned earlier, this rare genetic disorder shares similar symptoms with HDR syndrome.
- Other Rare Genetic Disorders: Other rare genetic disorders, such as hypoparathyroidism-deafness-renal disease (HDR) syndrome, must be ruled out through comprehensive diagnostic testing.
Importance of Accurate Diagnosis
Accurate diagnosis of HDR syndrome is crucial for providing appropriate treatment and management strategies. Misdiagnosis or delayed diagnosis can lead to complications and poor outcomes.
References:
[1] by YS Shim · 2015 · Cited by 19 — Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome ...
[2] by ADD Joseph · 2019 · Cited by 19 — It is important to consider Barakat syndrome as a differential diagnosis in patients with isolated sensorineural deafness or renal ...
[4] by R Chetiwal · 2024 — Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare genetic disorder caused by haploinsufficiency of the GATA3 gene.
[6] by J Upadhyay · 2013 · Cited by 42 — Greater than 90% of HDR syndrome patients have concurrent hypoparathyroidism and deafness and over 80% have renal tract abnormalities (6).
Additional Differential Diagnoses
- Other Rare Genetic Disorders
- GATA3 Gene Mutations (HDR syndrome)
- N syndrome
Additional Information
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