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Affected children have rapid decline in kidney function resulting in end-stage renal disease within the first years of life, and require treatment with dialysis and kidney transplantation. [ 1 ] [ 4 ] Most children live fairly normal life post-transplant but will spend significant time hospitalised pre-transplant and have numerous surgeries to ...
In the early stages of the disease, this can result in mild symptoms such as reduced appetite or feelings of fatigue, but as CKD progresses, "complications like high blood pressure, heart disease ...
While not present at birth, kidney problems develop in many affected boys at about one year of age. [1] Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine. This problem is known as Fanconi-type renal ...
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]
Many forms of cystic kidney disease can be detected in children prior to birth. Abnormalities, which only affect one kidney, are unlikely to cause a problem with the healthy arrival of a baby. Abnormalities which affect both kidneys can have an effect on the baby's amniotic fluid volume, which can in turn lead to problems with lung development.
The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags ), or further malformation or absence of the ...
Disseminated disease: 25–30% of neonatal HSV infections. Disease is defined by multi-organ involvement, including liver, lungs CNS, heart, kidney, GI tract, and skin. Neonates with disseminated HSV infection present with nonspecific symptoms of neonatal sepsis. All infants with signs of neonatal sepsis should undergo testing for HSV and ...
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney.The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. [2]