genitourinary disorders
Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
Nephronophthisis
Inheritance is autosomal recessive. Nephronophthisis accounts for up to 15% of chronic kidney disease with renal failure in children and young adults (<20 years). There are 3 types: Infantile, median age at onset 1 year Juvenile, median age at onset 13 years Adolescent, median age at onset 19 years gene are the most common, identified in about 30 to 60% of patients. About 10% of patients with nephronophthisis also have other manifestations, including retinitis pigmentosa, Hepatic Fibrosis , intellectual disability, and other neurologic abnormalities. End-stage kidney disease (ESKD) often develops during childhood and causes growth restriction and bone disease. However, in many patients, these problems develop slowly over years and are so well compensated for that they are not recognized as abnormal until significant Symptoms and Signs appear. Imaging, genetic testing, or both The diagnosis should be suspected in children with the following, particularly if the urinary sediment is benign: Polydipsia and polyuria Progressively decreasing renal function, particularly without hypertension Associated extrarenal findings Anemia out of proportion to the degree of renal failure Proteinuria is usually absent. Diagnosis is confirmed by imaging, but cysts often occur only late in disease. Ultrasonography, CT, or MRI may show smooth renal outlines with normal-sized or small kidneys, loss of corticomedullary differentiation, and multiple cysts at the corticomedullary junction. Hydronephrosis is typically absent. Genetic testing is available. Supportive care In early disease, treatment involves management of Hypertension , electrolyte abnormalities and 