Hereditary kidney diseases

Basic panel polycystic kidney disease, autosomal dominant:
PKD1*, PKD2, HNF1B, UMOD, GANAB, PAX2
* PKD1 Exons 1-33 by conventional Sanger sequencing

Basic panel polycystic kidney disease, ARPDK  and differential diagnoses:
PKHD1, HNF1B, NPHP2, NPHP3, DZIP1L

Cystic kidney diseases are clinically and genetically heterogeneous. The autosomal dominant polycystic kidney disease ADPKD is one of the most common hereditary kidney diseases and can be ascribed to mutations in the PKD1 and PKD2 genes. This is to be distinguished from the autosomal recessive polycystic kidney disease ARPKD, which usually already manifests prenatally and whose molecular causes are mutations in the PKHD-1 gene. With clear clinical diagnosis the detecting rate of such a mutation lies around 90% for both, the ADPKD and the ARPKD. Especially in cases of cystic kidney diseases where family anamnesis, the course of the disease, the sonographic and/or histopathological finding show no definite differential diagnostic assignment is possible and other than the two mentioned most common forms seem to be possible, a molecular genetic clarification using a panel analysis can facilitate finding the exact classification. Besides the listed basic panels in consultation with the sender we also offer an extended panel diagnostic. For this we ask for short consultation (humangenetikukaachende or over the phone: +49 241 80-80178 or 80-80427)

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Basic panel Congenital Anomalies of the Kidney and the Urinary Tract:
HNF1B, DSTYK, PAX2, EYA1, ROBO2, GATA3, TBX18, CHD1L, SALL1, BMP4

Basic panel Renal agensis/hypoplasia:
RET, ITGA8, HNF1B, PAX2, EYA1, GREB1L, FGF20

Congenital malformations of the upper and lower urinary tract are summed up under CAKUT (“Congenital abnormalities of the kidney and the urinary tract"). These form the main cause of chronic kidney failure during infancy. CAKUT includes e.g. renal agenesis, renal hypoplasia und (cystic) renal dysplasia. The causes for CAKUT are very heterogeneous. Examination of the two most prevalent genetic causes of a CAKUT, the genes HNF1B and PAX2, only revealed 5-15% of the cases, depending on the group of patients studied. In addition, numerous other genes are known to cause CAKUT, but each of them only has a small share of the detection rate. Against this background, a parallel investigation of several disease-relevant genes can be useful in a so-called "panel analysis." In addition to the listed basic panels, we can also offer extended panel diagnostics in consultation with the submitter. For this we ask for short consultation (humangenetikukaachende or by phone: +49 241 80-80178 or 80-80427).

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Basic panel RTD:
AGT, AGTR1, REN, ACE

The renal tubular dysgenesis is a severe developmental disorder of the kidney, which usually leads to a foetal anuria. Hereditary RTD is caused by mutations in the components of the blood-pressure regulating RAAS, the renin-angiotensin-aldosterone-system. So far pathogenic variations of the genes AGTR1 (angiotensin II receptor type 1), AGT (angiotensinogen), ACE (angiotensin converting enzyme) and REN (renin) have been detected.

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Basic panel ADTKD:
UMOD, HNF1ß, REN

According to a current classification, mutations of the UMOD-gene, the HNF1B-gene, the REN-gene and the MUC1 gene are grouped under the term autosomal dominant tubulointerstitial kidney disease (ADTKD). As a result of interstitial renal fibrosis with tubular atrophy, there is usually a terminal renal failure between the 3rd and the 6th decade of life.

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Basic panel Nephronophthisis:

Stage 1:NPHP1 (deletion test)

Stage 2:NPHP1-NPHP6, NPHP11

Stufe 3: NPHP7-NPHP10, NPHP12-NPHP20

The autosomal recessive neophronophthisis is one of the primary ciliopathies in which a malfunction of the primary cilia or basal body leads to different developmental disorders. Mutations in several cilia genes can cause a NPH. Different ciliopathies partly behave allelicly to each other, further modifying genes are described with influence on the clinical expression. NPHP is one of the most common hereditary causes of chronic terminal renal failure in infancy and adolescence, accounting for about 6 to 10% of cases. About 15% of NPH cases may be associated with additional extra-renal changes, e.g. of the eyes, liver and cerebellum so that the transitions to the Joubert syndrome are smooth. In about 20 - 25% of the patients homozygous deletions of the NPHP1 gene are found, so it makes sense to set this targeted analysis before a panel examination.

Order and consent for genetic testing

Further information

  • Depending on clinical symptoms an individual selection of genes can be analysed using NGS-Panel. For this we ask for short consultation (humangenetikukaachende or by phone +49 241 80-89178 or 80-80427).
  • For some genes allelic diseases are described, this means some mutations in one gene can lead to different clinical symptoms and therefore to different diagnoses. Some genes may only be listed in one of the sub-panels, but are also offered by us. For this please not the alphabetic list of the entire panel.