Clinical AreaNephrology

Here you will find the disease-related gene panels available for the clinical area specified above.

If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).

Nephrogenetic diagnostics are used to clarify the hereditary causes of kidney diseases. The aim here is to detect deviations from the reference genome ("wild type") and then, if necessary, to differentiate between neutral variants and pathogenic mutations that are important for the physiological development and proper functioning of the nervous system. The inheritance patterns of neurogenetic diseases are the basis of genetic counselling for patients, persons at risk and affected families. In the last 30 years, several hundred genes have been characterized which cause nephrogenetic diseases or contribute to the development of corresponding disorders. Current results of nephrogenetic research have a direct impact on the diagnostic procedure in the laboratory and in genetic counselling. Formal genetically and etiologically the following groups of neurogenetic diseases can be distinguished:

• monogenic diseases (autosomal or X-linked inheritance)
• mitochondrial diseases (maternal or autosomal inheritance)
• multifactorial diseases (interaction of several to many genes plus environmental factors)

Congenital malformations of the kidney and the urinary tract often appear sporadically - is there a genetic (co-)cause? Numerous inherited nephrological disorders are demonstrably based on genetic changes and lead to disorders in the proteins that make up the complex renal tissue. Numerical and structural chromosomal defects are also occasionally found in nephrogenetic diseases. DNA diagnostics often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using extensive and cost-intensive panel procedures. Any mutations found, including variants with unclear significance (VUS), are verified by DNA sequence analysis using the Sanger technique. The more frequent disease groups are listed below.

Renal cysts, nephrological developmental and tubulointerstitial disorders In nephrogenetics, in the majority of diseases one or more genetic factors are causally involved in the causal pathogenesis of developmental disorders. Complete renal agenesia is rare. Kidney cysts occur as early polycystic kidney disease (including the autosomal recessive polycystic form [arPKD]) or in an autosomal dominantly inherited mode. Yet also the autosomal dominant polycystic liver disease is not to be forgotten here besides the late-manifesting form of PKD.

Under "CAKUT" a whole series of congenital anomalies of the kidney and the urinary tract are summarized. Nephronophthisis and nephronophthisis-related ciliopathies belong to this disease category as well as Bardet-Biedl syndrome subforms, COL4A1 nephropathy and von Hippel-Lindau (vHL) tumor syndrome. Diagnostic gene panels for developmental disorders comprise several genes that are sequenced in parallel. Initially, only those genes that appear to be best associated with the clinical picture are analysed. For more complex diagnostic questions, the individual gene panels can be used separately or in combination.

Focal segmental glomerulosclerosis, steroid-resistant nephrotic syndrome, complement deposition and thrombosis Pathophysiologically, this group also includes Alport syndrome, Fabry's disease and damage to the renal parenchyma caused by apolipoprotein L1 mutations is to be included.

Hereditary stone, renal-tubular diseases and other rare syndromes In addition to Ca-, oxalate and cystine stone disorders, related tubular hereditary defects also cause renal tubular acidosis, diabetes insipidus and monogenic syndromes such as Bartter/Gitelman syndrome. Finally, a large number of other syndromes can be excluded by differential diagnostics:

• Dent syndrome
• Denys-Drash syndrome
• Fanconi-Bickel syndrome
• Frasier's syndrome
• Joubert's syndrome
• Liddle syndrome 1-3
• Lowe syndrome
• Mainz-Saldino syndrome
• Meckel-Gruber syndrome
• Okihiro syndrome
• Perlman syndrome
• Pierson's syndrome
• renal coloboma syndrome
• senior-loken syndrome
• WAGR/WAGRO syndrome