Patient/Family | Mutation | M/P | Age at diagnosis/Death | Parental renal US | Renal pathology | Hepatic pathology | Prenatal findings | Additional postnatal/autopsy findings | HTNa | eGFRb (ml/min/1.73 m2) |
---|---|---|---|---|---|---|---|---|---|---|
1388 | T36M G770DfsX6 | P M | Prenatal/perinatal death | Normal | Enlarged kidneys with multiple microcysts | Yes | Oligohydramnios, infantile polycystic kidney disease | Pneumothorax on the right site, hypoxic-ischemic encephalopathy, mild club foot | N/A | N/A |
1513 | T36M R2671X | M de novo | Perinatal/perinatal death | Normal | Enlarged kidneys with multiple microcysts, two renal arteries on both sides | Yes | Enlarged kidneys | Bilateral pneumothorax, pulmonary hypoplasia - respiratory insufficiency | N/A | N/A |
1052 | T36M R124X | M P | Prenatal (TOP) | Normal | Enlarged kidneys with multiple microcysts | No | Anhydramnios, infantile polycystic kidney disease | -- | N/A | N/A |
600 | H2931P Exon deletion | M P | Prenatal/perinatal death | Normal | Enlarged kidneys with multiple microcysts | Yes (CHF) | Anhydramnios | Potter sequence, cerebral edema | N/A | N/A |
446 | Q905X | M | Prenatal (TOP) | Not available | Enlarged kidneys with dilated tubules in cortex and medulla | No | Oligohydramnios, infantile polycystic kidney disease | Mild pulmonary hypoplasia | N/A | N/A |
974 | No | N/A | Prenatal (TOP) | Normal | Hypoplastic kidneys with cystically dilated collecting ducts | No | Anhydramnios | Club foot, Potter facies, probable umbilical cord thrombosis | N/A | N/A |
1629 | No | N/A | Prenatal (TOP) | Mother, maternal grandmother/aunt/cousin - polycystic kidneys | Bilaterally massively enlarged kidneys with multiple microcysts | No | Oligohydramnios, bilaterally massively enlarged kidneys, pulmonary hypoplasia | -- | N/A | N/A |
883 | No | N/A | Prenatal | Mother - normal | Bilaterally enlarged hyperechogenic kidneys | -- | Normohydramnios, bilaterally enlarged hyperechogenic kidneys | -- | N/A | N/A |
460, 461 | I222V P755L | P M | 460: childhood (6 years) 461: prenatal | Normal | 460: slightly enlarged kidneys, hyperechogenic cortex with areas with microcysts 461: bilaterally enlarged hyperechogenic kidneys with micro and macrocysts | 460: No 461: No | 460: N/A 461: oligohydramnios, prenatal US: normal | -- | 460: No 461: No | 460: 151 461: 90 |
1182 | No | N/A | Perinatal | Normal | Hyperechogenic normal size kidneys | Yes (US) | N/A | -- | Yes (drugs) | 79 |
1178 | No | N/A | Perinatal | Normal | Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation and macrocysts | No | N/A | -- | Yes (drugs) | N/A (after renal transplantation) |
889 | No | N/A | Prenatal | Normal | Polycystic kidneys on prenatal US | No | Polycystic kidneys | -- | Yes (borderline) | not available |
1340 | No | N/A | Perinatal | Normal | Enlarged kidneys with multiple nodulary hyperplastic structures (susp. nephroblastomatosis) | No (MRI) | Polyhydramnios | -- | Yes (drugs) | 111 |
1371 | No | N/A | Infantile (6 months) | Mother and maternal grandmother ADPKD | Multiple macrocysts in both normal size kidneys | No (but acquired micronodular liver cirrhosis on biopsy) | N/A | -- | No | 142 |