Barakat syndrome, also known as Hypoparathyroidism, Sensorineural deafness, and Renal disease (HDR) syndrome, is a heterogenous, autosomal dominant rare genetic disorder with incomplete penetrance and variable expressivity.
It is primarily caused by deletion of chromosome 10p14 or mutation of GATA3 gene, located on chromosome 10. The disease was first described by Amin J. Barakat et al. in 1977 in siblings with hypocalcemia and proteinuria.
The exact prevalence of the disease is unknown. So far, about 180 individuals from different racial and ethnic groups have been reported in the worldwide medical literature. People of both sexes have been described.
Signs and Symptoms
Barakat syndrome is a genetic developmental disorder with clinical diversity characterized by hypoparathyroidism, sensorineural deafness, and renal disease. HDR syndrome may present at any age with deafness, hypocalcemia, afebrile convulsions, and tetany. Congenital kidney and urinary tract anomalies could be the first presenting finding.
Renal diseases include congenital kidney anomalies and urinary tract (cystic, dysplastic, hypoplastic or aplastic kidneys, pelvicalyceal deformity, vesicoureteral reflux), chronic kidney disease, nephrotic syndrome, proteinuria, hematuria, etc. Several additional features, such as congenital heart disease, facial and ocular abnormalities (retinitis pigmentosa, nystagmus, ptosis, pseudopapilledema), basal ganglia calcifications, growth failure, psoriasis, and cognitive disability have also been described.
Hearing loss is usually bilateral and may range from mild to profound impairment.
Other reported features include polycystic ovaries, and ischemic stroke.
Prevalence
Unknown
Inheritance
Autosomal dominant
Age of Onset
All ages
Diagnosis
The diagnosis of Barakat syndrome is primarily based on clinical findings. Additional tests such as measuring parathormone levels, an audiogram or auditory brain stem response study, renal imaging studies, and possibly a renal biopsy can be helpful. While the syndrome is typically identified by the "HDR" triad, only about 65% of reported patients actually exhibit this triad; others may have different combinations of "H," "D," and "R" symptoms. Diagnosis is confirmed in patients with the "HDR" triad or, alternatively, those with two out of three features along with a positive family history. Patients with only deafness or renal disease, as well as those who do not meet these criteria, require positive GATA3 testing to confirm the diagnosis. It's important to note that GATA3 mutations have not been linked to isolated hypoparathyroidism.
Differential diagnoses to consider are familial idiopathic hypoparathyroidism, progressive sensorineural deafness without renal disease, autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay, and deletion 22q11 syndrome. In cases where infants are prenatally diagnosed with chromosome 10p defect or congenital anomalies of the kidney and urinary tract, HDR syndrome should be included in the differential diagnosis.
Family members of affected patients should be studied, investigating for ''H'', ''D'', and ''R''. GATA3 testing should be considered.
Nursing Interventions
Monitoring and Managing Calcium Levels: Since hypoparathyroidism is a key feature of Barakat syndrome, monitoring serum calcium levels is important. Nursing staff should be vigilant for signs of hypocalcemia (low calcium levels) such as muscle cramps, tetany, and seizures. Calcium supplementation may be necessary to maintain normal calcium levels.
Hearing Support: Sensorineural deafness, another characteristic of the disease, can significantly impact communication and quality of life. Nurses can provide support by ensuring access to hearing aids or other assistive devices and educating patients and families about communication strategies.
Renal Function Monitoring: Regular monitoring of renal function, including kidney function tests and blood pressure monitoring, is important for individuals with Barakat syndrome. Nurses can help coordinate these tests and provide education on maintaining kidney health.
Symptom Management: Managing symptoms such as muscle cramps, seizures, and renal complications may require a multidisciplinary approach. Nurses can work with the healthcare team to develop a comprehensive symptom management plan tailored to the individual's needs.
Patient and Family Education: Providing education about Barakat syndrome, including its symptoms, complications, and management, is crucial. Nurses can help patients and families understand the importance of adherence to treatment plans and regular follow-up care.
Psychosocial Support: Living with a rare genetic disorder can be challenging. Nurses can provide emotional support and connect patients and families with support groups or counseling services.
Coordination of Care: Coordinating care among various healthcare providers, including specialists such as endocrinologists, nephrologists, and audiologists, is essential for managing HDR syndrome effectively. Nurses can help ensure that all aspects of care are integrated and well-coordinated.
Treatment
Patients with HDR syndrome require comprehensive treatment, including genetic counseling. Management focuses on symptom relief and is tailored to the individual's clinical presentation and disease severity. Hypocalcemia is often the primary concern and requires treatment. Early intervention for deafness is crucial, typically involving hearing aids or cochlear implants. Kidney disease management varies based on the specific abnormality, ranging from observation for cysts to medical or surgical interventions, such as renal transplantation. Early diagnosis and treatment of chronic kidney disease are essential to delay or prevent end-stage renal disease.
Prognosis
The outlook varies based on the type and severity of kidney disease. Patients with mild kidney issues typically have a normal life expectancy.