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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 ...
Segmental hypoplasia or Ask-Upmark kidney is a rare renal disease where a part of the kidney has undergone hypoplasia. The number of renal lobes is reduced, and the kidney size is less than two standard deviations from the average, with the weight often being over 50g in adults and 12–25g in children.
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]
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.
In the general population, the frequency of medullary sponge kidney disease is reported to be 0.02–0.005%; that is, 1 in 5000 to 1 in 20,000. The frequency of medullary sponge kidney has been reported by various authors to be 12–21% in patients with kidney stones. [10] The disease is bilateral in 70% of cases. [citation needed]
Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop. Unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L. [1] It has also been associated with mutations in the genes RET or UPK3A [2] in humans [3] and mice respectively.
A pelvic kidney, also known as an ectopic kidney, is a normal kidney located in the pelvis, instead of the abdomen. This occurs when a kidney does not ascend from its original location in the pelvis to its final location during prenatal development. They usually present no symptoms, but can increase risk of certain illnesses and healthcare ...