Nephronophthisis and autosomal dominant tubulointerstitiale kidney disease (ADTKD) are genetic disorders that lead to cysts that are limited to the adrenal medulla and the adrenal medulla beef transition and result in end-stage kidney failure.

(See also Overview of cystic Nierenerkrankheiten.)

Nephronophthisis and autosomal dominant tubulointerstitiale kidney disease (ADTKD) are genetic disorders that lead to cysts that are limited to the adrenal medulla and the adrenal medulla beef transition and result in end-stage kidney failure. (See also Overview of cystic Nierenerkrankheiten.) Nephronophthisis and autosomal dominant tubulointerstitial kidney disease (ADTKD) are combined because they show many similarities. You can form cysts, which are limited to the adrenal medulla or adrenocortical Mark border, and a triad of tubular atrophy, tubular disintegration of the basement membrane and interstitial fibrosis. Cysts can be present or not, and are a result of tubular dilation. The changes are likely to have similar underlying mechanisms, although they are not well characterized. Among the features of both diseases include the following: A vasopressin (ADH) -resistant urinary concentration defect that leads to polyuria and polydipsia Strong sodium excretion, making supplementation necessary. Anemia tendency to faint proteinuria and a benign urinary sediment In the final eventually renal failure (ESRD). Among the main differences between Nephronophthisis and medullary cystic kidney disease include inheritance patterns and age of onset of chronic kidney disease. Nephronophthisis Inheritance autosomal recessive done. By Nephronophthisis up to 15% of cases of chronic kidney disease with kidney failure in children and young adults (<20 years) due. There are 3 types: infantile, mean age of onset one year Juvenil, mean age of onset 13 years Adolescent, medium sErkrankungsalter 19 years Elf gene mutations have been identified in patients with nephronophthisis. Mutations of the gene NPHP1 are the most common and the patients were identified at about 30-60%. About 10% of patients with Nephronophthisis also have other manifestations, including retinitis pigmentosa, liver fibrosis, mental retardation and other neurological abnormalities. ESRD often develops during childhood and causes growth restriction and bone disorders. In many patients, however, these problems develop slowly over years and be so well compensated that they are not noticed as abnormal occur to severe uremic symptoms. Occasionally, hypertension developed. Diagnostic imaging techniques, genetic testing, or both The diagnosis should be suspected in children with the following symptoms, especially if the urine sediment is benign: polydipsia and polyuria progressive decrease in renal function, especially without hypertension associated extrarenal findings anemia is Proteinuria in proportion to the degree of renal failure usually not. The diagnosis is confirmed by imaging, but the cysts occur late in the disease process. Ultrasound, CT or MRI show delicate outlines of normal-sized or smaller kidneys and the loss corticomedullar differentiation and many cysts in corticomedullar transition area. Hydronephrosis is usually not. Genetic tests are verf├╝gbar.Therapie Supportive treatment in the early stages of the disease, the treatment aims to control the high pressure, electrolyte and acid-base balance disorder and anemia. Children with growth restriction may respond to nutritional supplements and growth hormones. At the end of the development of renal failure requiring dialysis or transplantation in all patients. Autosomal dominant tubulointerstitial kidney disease (ADTKD) The autosomal dominant tubulointerstitial kidney disease (previously known as medullary cystic kidney disease) is a group of rare genetic disorders. A consensus report (1) of the "Kidney Disease Improving Global Outcomes" (KDIGO) has proposed to classify these disturbances on the causative gene which currently four are known (see table: Autosomal dominant tubulointerstitial kidney disease: Gene-based classification). Autosomal dominant tubulointerstitial renal disease: Gene-based classification causal gene Past terminology properties uromodulin (UMOD) uromodulin associated kidney disease (UAKD) uromodulin-associated kidney disease (UAKD) Familial juvenile hyperuricemic nephropathy (FJHN) Medullary cystic kidney disease type 2 (CKD2) If rare in the Childhood ago Early gout with hyperuricemia mucin 1 (MUC1) mucin-1 kidney disease (MKD) Medullary cystic Kidney disease type 1 (MCKD1) fails in childhood before renin (REN) Familial juvenile hyperuricaemic nephropathy type 2 (FJHN2) often occurs in childhood Slight hypotension risk of acute kidney injury risk for anemia, hyperuricemia and hyperkalemia Hepatozytenkernfaktor-1-beta (HNF1B) maturity-onset diabetes mellitus of the Young type (MODY5) renal cyst and diabetes syndrome (RCAD) often occurs in childhood Prenatal ultrasound findings abnormalities of the reproductive organs Pancreasatrophie hypomagnesemia, hypokalemia abnormalities due to liver tests Among the histopathological changes that are common in these diseases include interstitial fibrosis tubular atrophy thickening of the tubular basement membranes Possible cyst formation as a result of tubular dilation complement and immunoglobulin staining absent in immunofluorescence. The autosomal dominant tubulointerstitial kidney disease strikes people aged 30-70 years. About 15% of patients have no family history, suggesting a sporadic new mutation. Hypertension is common, but usually only weak and is not typically the occurrence of renal dysfunction advance. Hyperuricemia and gout are common and can precede the onset of significant renal failure. ESRD typically develops between the ages of 30 and 50 years. ADTKD should be suspected in patients with the following symptoms, especially if the urine sediment is benign: polydipsia and polyuria gout at a young age gout and chronic kidney disease lack a family history of Proteinuria or is weak. The results of imaging studies have many similarities to Nephronophthisis, however, renal medullary cysts are only sometimes visible. A genetic test can confirm the diagnosis. A kidney biopsy may be necessary in at least one affected family member. The therapy usually corresponds to the at Nephronophthisis. Allopurinol can help to control gout. Note Eckardt K-U, Alper SL, Antignac C, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int 88: 676-683, 2015. Key points nephronophthisis and autosomal dominant tubulointerstitiale renal disease causing inability to concentrate urine (polyuria and polydipsia in), sodium wasting, anemia, and ESRD. Nephronophthisis is autosomal recessive and caused ESRD during childhood, while the ADTKD is autosomal dominant and ESRD caused at the age of 30 to 50. Perform imaging the kidney by and pick you up, if available, genetic testing one. Treat them related disorders and kidney disease supportive.

Health Life Media Team

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