. Cystic Diseases of the Kidney
Cystic Diseases of the Kidney Friedhelm Hildebrandt Virtually all renal cystic illnesses are monogenic diseases (Table 470-1). A recent unifying theory of their pathophysiology suggests that all gene…
. Buruli Ulcer ( Mycobacterium ulcerans Infection)
Buruli Ulcer (Mycobacterium ulcerans Infection) Wayne M. Meyers, Françoise Portaels, and Douglas S. Walsh Mycobacterium ulcerans causes indolent, necrotizing cutaneous lesions known as Buruli ulcers.1M ulcerans infections present…
. Acute Renal Failure
Acute Renal Failure Prasad Devarajan Acute renal failure (ARF) is classically defined as a rapid decline in glomerular filtration rate (GFR), leading to accumulation of nitrogenous wastes such…
. Aspiration Syndromes
Aspiration Syndromes Cori L. Daines Pulmonary aspiration is defined as the passage of foreign material or fluid into the lungs during inspiration. Pathologic aspiration events can be divided…
. Disorders of Galactose and Fructose Metabolism and Gluconeogenesis
Disorders of Galactose and Fructose Metabolism and Gluconeogenesis Priya S. Kishnani and Yuan-Tsong Chen DISORDERS OF GALACTOSE Galactosemia denotes the elevated level of galactose in the blood and…
. Disorders Causing Airway Obstruction
Disorders Causing Airway Obstruction INSPIRATORY AIRWAY OBSTRUCTION Shean J. Aujla It is important to recognize the differences between the pediatric and adult upper airway to fully understand why…
. The Patient with Single Ventricle
The Patient with Single Ventricle Jacqueline Kreutzer Single ventricle or univentricular heart refers to a limited number of congenital heart lesions from a strict anatomic perspective. Anatomically, single…
. Genetics of Heart Disease
Genetics of Heart Disease Kathleen M. Ruppel Most congenital heart defects (CHDs) are due to the interaction of genetic predisposition with environmental influences. Historically, evidence for a genetic…
. Urea Cycle and Related Disorders
Urea Cycle and Related Disorders Mendel Tuchman, Uta Lichter-Konecki, and Mark L. Batshaw Ammonia is a degradation product of nitrogen-containing compounds (mainly proteins and amino acids) and is…
