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Macrosomia, macrocephaly, enlarged kidneys, macroglossia, cardiac abnormalities, and visceromegaly may become evident by the second and third trimesters. [1] [3] Polyhydramnios is frequently observed. [2]
Kidney function may be normal in the first weeks or months of life. [3] Laboratory studies show low serum levels of protein (albumin) and immunoglobulins, and elevated levels of triglycerides and cholesterol. [1] Blood work may also show thyroid and vitamin D deficiency. [1] Kidneys on ultrasound imaging may appear enlarged and brighter ...
Complications may also arise from enlarged/malformed kidneys, which may result in kidney failure and the child's going on dialysis or requiring a kidney transplant. Many individuals with prune belly syndrome have good physical and mental health, despite all the concerns. [ 8 ]
Most children with BWS do not have all of these features. In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac anomalies, musculoskeletal abnormalities, and hearing loss. Also, some premature newborns with ...
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]
Type I is due to autosomal recessive polycystic kidney disease (ARPKD), which occurs at a frequency of approximately one in 16,000 infants. The kidneys of the fetus/neonate will be enlarged, have many small cysts filled with fluid, and will fail to produce an adequate volume of fetal urine.
Infantile, juvenile, and adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, people affected by nephronophthisis typically present with polyuria (production of a large volume of urine), polydipsia (excessive liquid intake), and after several months to years, end-stage kidney disease, a condition necessitating either dialysis or a kidney ...
Nephromegaly is the process whereby a kidney or both kidneys become enlarged. [1] Both autosomal dominant and autosomal recessive polycystic kidney disease can cause nephromegaly. [ citation needed ]