Barakat Syndrome – What It Is, Causes, Symptoms and Treatments

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The  Barakat Syndrome  or HDR Syndrome  is a little known syndrome, however, must be known, it is a dangerous condition. In addition,  Barakat Syndrome , also known as HDR Syndrome, was first described by J. Barakat Amin et al . in 1977. The frequency is unknown, but the disease  is considered to be very rare.

The Barakat Syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and illness  kidney and therefore also known as HDR syndrome. It was first described by Amin J. Barakat et al. in 1977.

What is Barakat Syndrome

HDR syndrome is an  inherited disease consisting of hypoparathyroidism, sensorineural deafness and kidney disease. The exact prevalence is unknown, but the disease  is considered very rare, with about two dozen patients described so far. Patients may have HDR at any age with hypocalcemia, tetanus, or febrile seizures. Deafness is usually bilateral, with hearing damage ranging from mild to profound.

Manifestations of  renal disease include nephrotic syndrome, liver cyst, renal dysplasia, hypoplasia or aplasia, pyelocalitic deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. The defect in most cases was mapped to chromosome 10 (region 10pter-p13 or 10p14-p15.1). Haploinsufficiency (deletions) of the zinc finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome.

Heredity is probably autosomal dominant, although an autosomal recessive or X-linked heredity was suspected in the initial description. Diagnosis is based on clinical findings and may be complemented by measurement of parathyroid levels, an audiogram or study of brainstem evoked auditory response, renal imaging studies, and renal biopsy. Genetic analysis may demonstrate the presence of a submicroscopic deletion on chromosome 10p.

Barakat Syndrome Symptoms

This disorder is characterized by hypoparathyroidism, neurosensory deafness and renal disorder. Clinically, patients may have:

Deafness, typically bilateral, ranging from moderate to severe;

Renal dysplasia, hypoplasia or aplasia;

Chronic renal failure;

Urethral bladder reflux;

Pelvic deformity

Nephrotic syndrome;

Renal scars;

Renal cysts;

Hypocalcemia;

Seizures;

Proteinuria;

Hematuria;

Tetany

Causes of Barakat Syndrome

The Barakat syndrome is inherited as an autosomal dominant. Dominant genetic disorders occur when only a single copy of the abnormal gene is required to cause a particular disease . The abnormal gene may be inherited from either parent or may be the result of a new mutation (gene alteration) in the affected individual. The risk of moving from the affected parent’s abnormal gene to offspring is 50% for each pregnancy.

The risk is the same for men and women. The disease  may have variable expression in different family members from severe to mild to absent (reduced penetration). Autosomal recessive or X-linked inheritance has been suspected in the original report, but Hasegawa et al. They suggested that the inheritance of these patients may be autosomal dominant with reduced penetration.

The defect in most cases was mapped to chromosome 10p (10p13, 10pter-p13, 10p13: 5, 10p15.1-p14, 10p15.3-p15.1). Deletions of the zinc-finger transcription factor gene (GATA3) or mutations in the GATA3 gene are essential in embryonic development of parathyroid, auditory system and kidney and appear to be the underlying cause of this syndrome. The syndrome may also be caused by some genetic mutations.

Further studies are needed to determine the type of mutations or other factors that may cause this syndrome. The occurrence of several renal abnormalities would not be inconsistent with a single genetic mutation. Other unspecified genetic factors may play a role in disease severity .

Barakat Syndrome Treatment

The treatment is multidisciplinary and consists of treating clinical abnormalities associated with hypoparathyroidism, deafness,  kidney disease according to the patient’s symptomatic presentations. Severity depends on the  kidney disease presented.

Correction of the clinical abnormalities presented.

Symptomatic to control the main symptoms.

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