| Publications :: | Associate
Professor of Pediatrics Division of Pediatric Rheumatology 
Dr. Bettina Ault has focused her research on the hemolytic-uremic
syndrome (HUS), which consists of severe anemia, thrombocytopenia
(low platelets), and kidney failure. In this country, the most common
type of HUS is that associated with infection by a toxin-producing
strain of E. coli, O157:H7. Outbreaks of infection with this bacterium
have been associated with contaminated meat, and a number of children
who have contracted disease from this strain of E. coli have developed
HUS. A few have even died from this disease. The hemolytic-uremic
syndrome may also result from infection with pneumococcus (a bacterium
which causes pneumonia and meningitis), or it may follow bone marrow
transplantation. There are also cases of HUS which are idiopathic
(not associated with any known infection). Many of these cases appear
to have a genetic cause. One gene associated with idiopathic HUS is
the gene for factor H, a gene of the complement system (a group of
blood proteins which protect the body from infection). Dr. Ault has
been studying the factor H gene of several individuals with idiopathic
HUS to see if mutations in this gene could be responsible for their
disease. The angiotensin converting enzyme (ACE) gene regulates levels
of angiotensin II, a hormone involved in control of blood pressure.
Previous studies have suggested that individuals who inherit a certain
form of the ACE gene are more likely to develop kidney failure, if
they have a variety of kidney diseases. Dr. Ault’s laboratory
has screened more than 70 pediatric patients with IgA nephropathy,
the most common form of chronic inflammation of the kidney in this
country. She has found that pediatric patients with IgA nephropathy
who have a particular mutation of the ACE gene progress more quickly
to kidney failure. Dr. Ault’s work in understanding the role
of factor H in the development of HUS and the ACE gene in the development
of IgA nephropathy will have an important impact on predicting both
the development and severity of these diseases in children and will
likely lead to better therapies for these diseases, as these findings
are translated into the clinical arena. |
Brown ML, Chesney PJ, Ault BH, Delos Santos NM, Truong LD, Lohr KM, Myers LK. Fever and rash. Clinical Pediatrics (Phila.) 2008; 47:610-614. Delos Santo NM, Brown ML, Chesney PJ, Ault BH, Delos Santos NM, Truong LD, Lohr KM, Myers LK. Fever and rash. Clinical Pediatrics (Phila.) 2008; 47:610-614. Delos Santo NM, Ault BH. Hematuria. In Pediatric Nephrology for the Primary Care Physician, Barakat A, Chesney RW (eds) American Academy of Pediatrics, Elk Grove Village, 2009, pp 143-158 Zepeda-Orozco D, Ault BH, Jones DP. Factors associated with acute renal failure in children with rhabdomyolysis. Pediatr Nephrol 2008; 23(12):2281-2284. Lau KK, Ault BH, Jones DP, Butani L. Induction therapy for pediatric focal proliferative lupus nephritis: cyclophosphamide versus mycophenolate mofetil. J Pediatr Health Care 2008; 22(5):282-288. Spencer JD, Hastings MC, Rye AK, English BK, Ault BH. Gastroenteritis caused by Edwardsiella tarda in a pediatric renal transplant recipient. Pediatr Transplant 2008; 12(2):238-241. Spencer JD, Sanders JT, Ault BH. Two cases of hematuria with hemoglobin C trait. Pediatr Nephrol, 2009; 24:2455-2457. |