Papers by Amin J . Barakat
Pediatric Annals, Mar 1, 2013
Barakat syndrome, also known as HDR syndrome, is a clinically heterogeneous, rare genetic disorde... more Barakat syndrome, also known as HDR syndrome, is a clinically heterogeneous, rare genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. In most cases, the syndrome is caused by deletions or mutation in the zinc-finger transcription factor GATA3 on chromosome 10p14. Hearing loss is the most consistent feature of the syndrome, occurring in 96% of reported patients. Patients present with early onset, moderate to severe sensorineural hearing loss, usually bilateral and slightly worse at the higher end of the frequency spectrum. The outer hair cells play an important role in the etiology of the hearing loss. Using a next generation sequencing gene panels that included GATA3 in patients with apparently isolated deafness has allowed the early identification of GATA3 mutations in patients with previously unrecognized Barakat syndrome. Hearing treatment should be instituted as early as possible in children to help their speech, language, and social skills reach their full potential. We discuss here the characteristics and genetics of sensorineural hearing loss associated with the Barakat syndrome.
PubMed, 1985
The eye is a mirror that reflects pathologic changes occurring in many organs. The present paper ... more The eye is a mirror that reflects pathologic changes occurring in many organs. The present paper presents eye changes in renal disease including hereditary progressive nephritis, cystic disease of the kidney, cystinosis, and diffuse mesangial sclerosis. It also touches on these changes in some syndromes with major renal involvement.
PubMed, Oct 1, 1986
The kidney is involved in a variety of systemic diseases and conditions including collagen, endoc... more The kidney is involved in a variety of systemic diseases and conditions including collagen, endocrine, liver, infectious, neoplastic, and cardiac diseases, as well as pregnancy. Renal involvement in hematologic diseases has not been stressed. In this review we will summarize the role of coagulation in the pathophysiology of renal disease and present renal involvement in sickle cell anemia, hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, leukemia, and other less common hematologic diseases.
Churchill Livingstone eBooks, 1986
Developmental anatomy and physiology of the kidney abnormalities of kidney structure abnormalitie... more Developmental anatomy and physiology of the kidney abnormalities of kidney structure abnormalities of kidney function metabolic disorders with renal involvement - aminoacidopathies and organic acidemias, storage diseases, renal stones, other metabolic diseases tumours haematologic disorders chromosomal abnormalities other disorders and syndromes. Appendices: genetic diseases associated with different renal abnormalities hereditary and acquired aminoacidopathies genetic diseases associated with urogenital abnormalities antenatal diagnosis of renal disease kidney transplantation in genetic renal disease chromosomal gene map of genetic conditions.
PubMed, 1988
The occurrence of abnormalities of the kidney, urinary tract and other organ systems was reviewed... more The occurrence of abnormalities of the kidney, urinary tract and other organ systems was reviewed in 13,775 autopsies. Forty-seven percent of 427 autopsies (60% of those under 18) with congenital abnormality of the kidney and urinary tract were found to have an associated abnormality other organ systems. Abnormalities of the cardiovascular (CV) system were most commonly associated with those of the kidney and urinary tract (25%), followed by the gastrointestinal (GI) tract (18%), central nervous system (10%), skeletal (9%), respiratory (8%), facial (7%), reproductive (5%), and chromosome and abdominal wall abnormalities (4% each). Renal and urinary tract abnormalities should be ruled out in any individual presenting with abnormalities of other organ systems, particularly the CV and GI systems and the CNS.
PubMed, Apr 1, 1985
An infant with beta thalassemia major and distal renal tubular acidosis is described. Screening o... more An infant with beta thalassemia major and distal renal tubular acidosis is described. Screening of forty patients with beta thalassemia major revealed no evidence of renal tubular acidosis. Although the possibility of coincidence cannot be completely excluded, we suggest that beta thalassemia major should be added to the list of conditions associated with distal renal tubular acidosis.
PubMed, Oct 1, 1987
The frequency of malformations of the kidney and urinary tract is much higher in patients with ch... more The frequency of malformations of the kidney and urinary tract is much higher in patients with chromosome aberrations than in the general population. Sixty to 100% of "cat-eye" syndrome, 60 to 80% of Turner, 75% of trisomy 8, 33 to 70% of trisomy 18, 50 to 60% of trisomy 13, and over 50% of triploidy and tetraploidy patients may have such abnormalities. Renal and urinary tract malformations should be looked for in all patients with chromosome aberrations. Moreover, a chromosome study is indicated in any fetus with an ultrasonographic evidence of urinary tract abnormality.
Clinical Pediatrics, Dec 1, 1978
American Academy of Pediatrics eBooks, Sep 1, 2008
PubMed, Apr 3, 2001
Gitelman's syndrome (GS) is a heritable renal disorder characterized by hypomagnesemia, hypokalem... more Gitelman's syndrome (GS) is a heritable renal disorder characterized by hypomagnesemia, hypokalemia and hypocalciuria, and distinct from Bartter's syndrome (BS). As compared to those with BS, patients with GS present at an older age, and they have a milder clinical picture, normal or slightly decreased concentrating ability, reduced urinary excretion of calcium, and permanently decreased serum magnesium level. GS is caused by defective NaCl transport in the distal convoluted tubule, and linked to the gene encoding the thiazide sensitive Na-Cl-cotransporter located on chromosome 16q. Patients with BS, on the other hand, have mutations in the transporters in the thick ascending loop of Henle (NKCC2, ROMK, and C1C-Kb). Treatment of GS consists of magnesium salt replacement. Long term prognosis in terms of maintaining growth, preserving renal function and life expectancy is excellent.
Urology, Oct 1, 1991
Records of 13,775 consecutive autopsies were reviewed to determine the incidence of renal and uri... more Records of 13,775 consecutive autopsies were reviewed to determine the incidence of renal and urinary tract abnormalities. A total of 636 abnormalities were found in 427 autopsies, with an overall frequency of 4.6 percent and 9.5 percent in males under eighteen years old. The kidney was involved in 45.1 percent, ureters 29.1 percent, renal vessels 12.4 percent, urethra 5.3 percent, bladder 4.8 percent, and fistulas 3.3 percent. We conclude: (1) Although it is difficult to assess accurate incidence rates of renal and urinary tract abnormalities, this study notes the frequency of these abnormalities in autopsies. (2) The markedly higher incidence in the younger age group indicates the high mortality of many of these anomalies. (3) Over 85 percent of abnormalities are in the upper urinary tract, which are more likely to produce end-stage renal disease and a higher mortality. (4) These observations indicate the importance of further research to establish methodology for early detection of congenital abnormalities of the kidney and urinary tract.
The Journal of Pediatrics, Feb 1, 1989
Autopsy records indicate that obstructive uropathy occurs in childhood in 2% to 3.8% of cases1; c... more Autopsy records indicate that obstructive uropathy occurs in childhood in 2% to 3.8% of cases1; congenital anomalies are the most common cause. Although obstrUction accounts for approximately 20% of cases of renal failUre in infants and children, 2 the pathophysiologic process leading to Uremia remains only partially ufiderstood. Many important inechanisms underlie depression of glomerular filtration CaUsed by urinary tract obstruction. Some apparently controversial observations seem tO stem largely from the fact that the underlying causes differ quantitatively and qualitatively, depending on whether the Obstruction is Complete or partial, whether acute or chronic, and whether bilateral or unilateral. 3-5 Similarly, the changes in filtration function differ among species, within the same species, and between immature and mature animals? In addition, the severity of renal failure is profoundly affected by conditions such as volume status 7 and diet s before the onset of obstruction. There are, however, several important principles that are consistent. BOWMAN SPACE PRESSURE In contrast to the classic belief, an increase in the Bowman space pressure, with some special exceptions, does not play a major role in the depression of glomerular filtration in either complete or partial obstruction. In dogs (Fig. 1), ureteral pressure reaches a maximal level 5 to 6 hours after complete unilateral obstruction and thereafter Drs. Chevalier and Ichikawa are recipients of Established Investigatorship Awards. American Heart Association.
Book Publisher International (a part of SCIENCEDOMAIN International), Aug 31, 2022
Le Journal médical libanais. The Lebanese medical journal, Jul 1, 2010
Pediatric hypertension was historically assumed to be secondary to renal, cardiovascular or endoc... more Pediatric hypertension was historically assumed to be secondary to renal, cardiovascular or endocrine causes. Over the last two decades, there has been increased awareness that hypertension in children may be a part of the spectrum of essential hypertension, mainly linked to the obesity epidemic [1-2]. Essential hypertension, which continues to be a diagnosis of exclusion, accounts for over 85% of hypertension between the ages of 12 and 18.
The Journal of Pediatrics, Jul 1, 1977
Familial nephrosis, h ypoparat h yro idism nerve deafness, and Two male siblings with nephrotic s... more Familial nephrosis, h ypoparat h yro idism nerve deafness, and Two male siblings with nephrotic syndrome, nerve deafness, and hypoparathyroidism are described. Each child, one at five years of age and the other at eight years, died in renal failure. At autopsy the parathyroid glands were absent in one child and hypoplastie in the other one. Two twin male siblings presented with similar findings and died at the age of three years. A t autopsy their parathyroid glands were fibrotic, and glomerular basement membranes were thickened. This may be the first recorded association of familial nephrosis, nerve deafness, and hypoparathyroidism. The mode of transmission is compatible with autosomal recessive inheritance.
American journal of medical genetics, 1991
We report on an infant with a previously un-described chromosome 15 deletion (q26.1→ qter) and co... more We report on an infant with a previously un-described chromosome 15 deletion (q26.1→ qter) and compare the clinical findings with those of 7 reported patients with deletions of distal 15q, as well as ring chromosome 15 syndrome patients. Most of the patients with deletions of distal 15q, including our patient, have intrauterine growth retardation (IUGR), microcephaly, abnormal face and ears, micrognathia, highly arched palate, renal abnormalities, lung hypoplasia, failure to thrive, and developmental delay/mental retardation. Several genes have been assigned to the 15q25→qter region, including insulin-like growth factor 1 receptor (IGF1R). DNA analysis from our patient documented the loss of one IGF1R gene copy. Our study further localizes the IGF1R gene distal to the 15q26.1 band. It is interesting to speculate that the severe IUGR and postnatal growth deficiency of our patient and other patients with similar chromosome 15 deletions are related to the loss of an IGF1R gene copy which may lead to an abnormal number and/or structure of the receptors.
Springer eBooks, 1990
In the pediatric patient, especially the younger child, serious renal disease may present with fi... more In the pediatric patient, especially the younger child, serious renal disease may present with findings that are nonspecific or unrelated to the urinary tract such as irritability, diarrhea and failure to thrive. Thus, the clinician should always have a high index of suspicion for occult renal dysfunction whenever a child with symptoms or signs of unclear etiology is assessed. History and physical examination are the most important clues to the presence of renal disease. A simple urinalysis, performed by the examiner on a freshly voided urine specimen, is considered an integral part of a complete physical examination, and will be the subject of Chapter 3.
Archives of pediatrics & adolescent medicine, Sep 1, 1993
... this disorder. AMIN J. BARAKAT, MD ANTHONY J. CASTALDO, MPA Department of Pediatrics Georgeto... more ... this disorder. AMIN J. BARAKAT, MD ANTHONY J. CASTALDO, MPA Department of Pediatrics Georgetown University Medical Center 3800 Reservoir Rd NW Washington, DC 20007 1. Donaldson VH, Evans RR. A biochemical ...
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Papers by Amin J . Barakat