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. 2022 Jan 8;7(4):895-898.
doi: 10.1016/j.ekir.2021.12.027. eCollection 2022 Apr.

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

Claudia Izzi  1   2 , Chiara Dordoni  1   2 , Elisa Delbarba  1 , Cinzia Mazza  3 , Gianfranco Savoldi  3 , Laura Econimo  1 , Roberta Cortinovis  1 , Letizia Zeni  1   4 , Eva Martin  5 , Federico Alberici  1 , Francesco Scolari  1
Affiliations

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

Claudia Izzi et al. Kidney Int Rep. .
No abstract available

Keywords: PKD1; PKD2; PKHD1; autosomal dominant polycystic kidney disease; complex genotype; noncoding region.

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Figures

Figure 1
Figure 1
Imaging of relevant cases from ADPKD pedigrees revealing a marked phenotypic variability owing to complex genotypes. Pedigree 1: (a) abdomen MRI: index case with enlarged kidneys with multiple cysts; (b) abdomen CT scan: mother, normal kidney. Pedigree 3: abdomen CT scans: (c) index case with enlarged cystic kidney (left kidney length 151 mm) and (d) her father with cystic kidneys moderately enlarged (left kidney length 102 mm). Pedigree 4: (e) abdomen MRI: index case with severe enlargement of kidneys and multiple cysts. Pedigree 5: (f, g) abdomen MRI: index case with massive liver enlargement with multiple cysts. Pedigree 6: (h) abdomen MRI: index case with bilateral cortical renal cysts and small liver cysts. CT, computed tomography; MRI, magnetic resonance imaging.
See this image and copyright information in PMC

References

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