Fig. 4: Identified autosomal dominant polycystic kidney disease (ADPKD) phenocopies in three families. | Genetics in Medicine

Fig. 4: Identified autosomal dominant polycystic kidney disease (ADPKD) phenocopies in three families.

From: Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Fig. 4

Genotypes and phenotypes (including pedigrees) of families with identified APDKD phenocopies: upper panel (ID2.1): ARPKD (autosomal recessive polycystic kidney disease) due to pathogenic compound heterozygous PKHD1 variants (p.His3124Tyr, transmitted maternally/p.Arg1624Trp). Bilateral kidney cysts are indicated by red arrows. (I–II) Abdominal magnetic resonance imaging (MRI) shows bilateral polycystic kidney disease (red arrows) at the age of 45; 15 years after onset of end-stage renal disease (ESRD). Of note, childhood imaging was not available when bilateral kidney enlargement was reported. Middle panel (ID87.1): ALG9-associated PKD due to a heterozygous ALG9 truncating variant (p.Arg143*). (III–IV) Renal ultrasound shows multiple kidney cysts (bilateral) at the age of 31. Lower panel (ID29.1): Birt–Hogg–Dubé syndrome (BHDS) due to a pathogenic heterozygous FLCN variant (p.Lys508Arg). Of note, the son of the index patient who was found to harbor the FLCN missense variant in addition to a GANAB-VUS (p.Asp201Gly without entry in gnomAD) was also diagnosed with ESRD at age 30 due to bilateral PKD. (V) Abdominal MRI showing bilateral polycystic kidney disease with significant organ enlargement at the age of 65. (VI–VII) Computed tomography of the chest shows minimal signs of cystic lung disease (red arrows). Index patients are denoted by black arrows. Patients with ESRD are illustrated by filled black symbols while patients with CKD stage 3–4 are denoted by hatched symbols.

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