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Condition report · Urological

PBX1-Related Kidney and Urinary Tract Anomalies

A rare developmental condition in which the kidneys and urinary tract form differently, sometimes with ear differences or developmental delay. It is caused by changes in one copy of the PBX1 gene.

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The condition we analyse

Autosomal dominant

Caused by a change in one copy of the PBX1 gene, which plays a crucial role in kidney development. Several reported changes arose de novo.

Signs and symptoms

Small or abnormally formed kidneys, often on both sides, and other urinary tract differences, which can lead to reduced kidney function. Ear malformations and developmental delay are the most frequent features beyond the kidneys.

What a diagnosis changes

Kidney and urinary tract monitoring by a nephrologist, ear and hearing checks, and developmental assessment and support. Several cases arise de novo, but genetic counselling and parental testing help clarify recurrence risk.

Genes analysed

Also known as

CAKUTHED

MONDO:0060549OMIM 617641Orphanet 656130MedGen 1612119Sources: [1][2]

Limitations

  • Some people with this condition have a deletion on chromosome 1q23 that removes PBX1. Such deletions are not detected by small-variant analysis, so a negative result does not rule out the condition.

References

  1. Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF et al., 2018. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Journal of medical genetics
  2. Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C et al., 2017. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. Journal of the American Society of Nephrology : JASN

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