Search results
Results from the WOW.Com Content Network
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Samoyed hereditary glomerulopathy (SHG) is a hereditary, X-linked, noninflammatory disease of the renal glomeruli, occurring in the Samoyed breed of dog. The disease has been shown to be a model for Alport syndrome in humans [1] in that the disease resembles that of the human disease. Because of this, it is sometimes referred to by the name ...
Renal dysplasia is a type of familial kidney disease characterized by abnormal cellular differentiation of kidney tissue. Dogs and cats with kidney disease caused by these diseases have the typical symptoms of kidney failure, including weight loss, loss of appetite, depression, and increased water consumption and urination. [1] A list of ...
Glomerulocystic kidney disease can be inherited by autosomal dominant inheritance, develop due to urinary tract obstruction, [3] manifest in cell proliferation during organogenesis, [8] and develop through other related kidney diseases. Familial heritable GCKD can be inherited by offspring through adults which can cause GCKD in children or babies.
Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes. Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants. [5]
Nephronophthisis is a genetic disorder of the kidneys which affects children. [3] It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.
Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions [1] and with the inclusion of neoplasms with cystic changes, over 40 classifications and subtypes have been identified. Depending on the disease classification, the presentation may be at birth, or much later into adult life.
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.