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. 2020 Apr 30;11(5):496. doi: 10.3390/genes11050496

Table 1.

A brief summary, including symptoms and associated genes of the reported genetically inherited chronic kidney diseases.

Disease Brief Description Associated Genes References
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • -

    Autosomal dominant

  • -

    Affects around 12.5 million people in the world.

  • -

    Symptoms include renal and hepatic cysts, hypertension, urinary tract infections.
  • -

    PKD1

  • -

    PKD2

[2,3,4,5]
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • -

    Autosomal recessive

  • -

    Incidence rate: 1/20,000

  • -

    Affects neonates and infants.

  • -

    Symptoms include enlarged, cystic kidneys, oligohydramnios, hepatic fibrosis.
  • -

    PKHD1

  • -

    DZIP1L1

[6,7,8,9,10]
Nephronophthisis (NPHP)
  • -

    Autosomal recessive

  • -

    Categorised into infantile, juvenile and adolescent NPHP

  • -

    Symptoms include polyuria, polydipsia, anaemia, reduced kidney size and cysts in the corticomedullary area.
  • -

    NPHP1 – NPHP20

  • -

    AHI1

[11,12,13,14,15,16]
Joubert Syndrome (JS)
  • -

    Autosomal recessive

  • -

    20%-30% of JS patients develop NPHP

  • -

    Symptoms include hypotonia, hyperpnea, abnormal eye movements, delays in developmental abilities.
  • -

    NPHP1

  • -

    AHI1

  • -

    TMEM67

  • -

    CEP290

  • -

    RPGRIP1L

[16,17,18,19,20]
Meckel-Gruber syndrome (MGS)
  • -

    100% mortality rate

  • -

    Symptoms include polycystic kidneys, polydactyly and occipital encephalocele.

  • -

    Defective cilia/Wnt signaling

  • -

    NPHP3

  • -

    CEP290

  • -

    RPGRIP1L

[16,17,18,19,21,22,23]
IgA nephropathy (IgAN)
  • -

    Incidence rate of 2.5/100,000

  • -

    Clinical manifestations include synpharyngitic macroscopic haematuria, proteinuria.

  • -

    Varying prevalence based on ethnicity and gender observed with a possible increased risk in familial relations, indicating a genetic basis for IgAN

  • -

    Diagnosis typically dependent on presence of granular deposition of IgA in mesangium by immunofluorescent analysis on kidney biopsy samples

  • -

    Risk alleles in the HLA region at chromosomes 6p21 and 1q32.

 [24,25,26,27,28]
Focal and segmental glomerulosclerosis (FSGS)
  • -

    Incidence rate of 0.8/100,000 per annum, worldwide

  • -

    Presentation of podocyte lesions

  • -

    Can be categorised into idiopathic (primary) FSGS and secondary FSGS

  • -

    Can also be categorised based on cause of disease and morphological appearance of lesions

  • -

    Symptoms include oedema, proteinuria, microscopic haematuria, hypalbuminaemia and hypertension.
  • -

    APOL1

[29,30,31,32,33,34,35,36]