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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.
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.
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 ...
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.
The treatment options for autosomal recessive polycystic kidney disease, given there is no current cure, are: [4] Medications for hypertension; Medications and/or surgery for pain; Antibiotics for infection; Dialysis (if kidney failure is present) Kidney transplantation(in serious cases)
Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia), [2] increased blood pH , and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic.
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