PEDBASE.org - The Pediatric Database - Detailed information of BARAKAT'S SYNDROME

BARAKAT'S SYNDROME

DEFINITION:

A familial nephrosis characterized by proteinuria, progressive renal failure, bilateral nerve deafness, and hypoparathyroidism.

EPIDEMIOLOGY:

incidence: rare (only one family described)
age of onset:
- ?

risk factors:
- familial - autosomal recessive or x-linked
  - chrom.#: ?
  - gene: ?

PATHOGENESIS:

1. Background

disorder results in a secondary glomerulopathy
while the etiology is unknown it may involve a glomerular basement membrane (BM) abnormality

CLINICAL FEATURES:

1. Renal Manifestations

1. Proteinuria

progressing to nephrotic level

2. Complications

Nephrotic Syndrome (edema, hypoalbuminemia, hyperlipidemia)
Chronic Renal Failure (CRF)

2. Other Manifestations

bilateral nerve deafness (sensorineuronal)
hypoparathyroidism

INVESTIGATIONS:

1. Urinalysis

proteinuria - progressing to nephrotic level

2. Serum

decreased parathyroid hormone

3. Renal Biopsy

EM - glomeruli - fetal-like, thickened BM, calcinosis
- parathyroid - absent or hypoplastic

MANAGEMENT:

1. Supportive

no treatment for underlying disorder
multidisciplinary approach
- Paediatrics, Nephrology, Audiology, Endocrinology

2. Medical

medical management of complications:

1. Nephrotic Syndrome

fluid restriction, salt-free diet, diuretics, albumin transfusions, prednisone, alkylating agents
see file on "Idiopathic Nephrotic Syndrome"

2. Chronic Renal Failure

dialysis, renal transplant

3. Hypoparathyroidism

hypoparathyroid replacement

Pediatric Database - BARAKAT'S SYNDROME

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