genitourinary disorders
Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
Autosomal dominant tubulointerstitial kidney disease (previously known as medullary cystic kidney disease) is a group of uncommon genetic disorders. A consensus report ( Treatment reference ) from Kidney Disease Improving Global Outcomes (KDIGO) has proposed classifying these disorders based on the causative gene, of which 4 are currently known (see table Histopathologic changes common to these disorders include Interstitial fibrosis Tubular atrophy Thickening of tubular basement membranes Possible cyst formation as a result of tubular dilation Absence of complement and immunoglobulin staining on immunofluorescence Autosomal dominant tubulointerstitial kidney disease affects people in their 30s through 70s. About 15% of patients have no family history, suggesting a sporadic new mutation. Hypertension is common but usually only modest and typically does not precede the onset of kidney dysfunction. Hyperuricemia and gout is common and can precede the onset of significant renal insufficiency. End-stage kidney disease (ESKD) typically develops at age 30 to 50. ADTKD should be suspected in patients with the following, particularly if the urinary sediment is benign: Polydipsia and polyuria Gout at a young age Family history of gout and Chronic Kidney Disease None Proteinuria is absent to mild. Results of imaging studies have many similarities to that of nephronophthisis; however, renal medullary cysts are only sometimes visible. Genetic testing can confirm the diagnosis. Renal biopsy may be necessary in at least one affected family member. Treatment is generally similar to Treatment . 1.Eckardt K-U, Alper SL, Antignac C, et al: Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management—A KDIGO consensus report.Kidney Int88(4):676-683, 2015. doi: 10.1038/ki.2015.28 Nephronophthisis and autosomal dominant tubulointerstitial kidney disease cause inability to concentrate urine (with polydipsia and polyuria), sodium wasting, anemia, and ESKD. Nephronophthisis is autosomal recessive and causes ESKD during childhood, whereas ADTKD is autosomal dominant and causes ESKD at age 30 to 50. Obtain renal imaging and, when available, genetic testing. Treat associated disorders and treat kidney disease supportively. 