Table 2. Clinical data of patients.
| Patient | Age at diagnosis | Parental renal ultrasound | Renal phenotype | Hepatic phenotype | HTN | eGFR (ml/min/ 1.73 m2) | Extra-renal/hepatic phenotype | Clinical diagnosis |
|---|---|---|---|---|---|---|---|---|
| 1 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis (US) | Yes | 25 | Eyes (COMA) | ARPKD |
| 2 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Normal | Yes | N/A (RRT since 12.9 years of age) | No | ADPKD–VEO |
| 3 | Infantile (6 months) | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis (US) | Yes | 73 | No | ARPKD |
| 4 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis (US) | Yes | 19 | No | ARPKD |
| 5 | Neonatal (anhydramnios) | Normal | Enlarged kidneys with multiple cysts | Normal (US) | Yes | 43 | No | ARPKD |
| 6 | Childhood (15 months, hepatomegaly) | Normal | Enlarged kidneys with multiple cysts and calcifications | Hepatosplenomegaly, CHF (biopsy proven), esophageal varices | Yes | 50 | No | ARPKD |
| 7 | Neonatal (US screening) | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis (US) | Yes | 54 | No | ARPKD |
| 8 | Neonatal (polyhydramnios, RDS, disproportional growth) | Normal | Enlarged kidneys with increased echogenity | Normal | Yes | 121 | Enteral polyps | ARPKD |
| 9 | Infantile (6 months) | Mother ADPKD | Normal sized kidneys with multiple cysts | Hepatomegaly, multinodular hepatic cirrhosis (biopsy) | Yes | 97 | Insulin resistance, obesity | ADPKD |
| 10 | Infantile (1 year) | Normal | Small sized hyperechogenic kidneys with several cysts | Normal sized liver with periportal fibrosis (US) | Yes (nephrotic range proteinuria) | N/A (RRT since 12.0 years of age) | Aplasia of vagina and uterus, primary amenorrhea | ARPKD, MRKH syndrome |
| 11 | Neonatal (preterm delivery, 29th gest. week, posthemorrhagic hydrocephalus) | Normal renal US (mother uterus duplex) | Normal sized hyperechogenic kidneys | Normal | Yes | 82 | Psychomotor retardation | RCAD syndrome |
| 12 | Infantile | Normal | Enlarged hyperechogenic kidneys with multiple cysts and calcifications | Normal | Yes | 90 | No | ARPKD |
| 13 | Neonatal (oligohydramnios) | Normal | Enlarged hyperechogenic kidneys | Normal | No | 77 | No | RCAD syndrome |
| 14 | Neonatal | Normal | Normal sized hyperechogenic kidneys | Hepatomegaly, periportal fibrosis (US) | Yes | N/A (RRT since 7.4 years of age) | Nystagmus | ARPKD |
| 15 | Infantile (3 months) | Normal | Enlarged hyperechogenic kidneys | Normal sized liver with periportal fibrosis (US) | Yes | 60 | No | ARPKD |
| 16 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Hepato- splenomegaly, CHF (US) | Yes | N/A (RRT since 14.4 years of age) | No | ARPKD |
| 17 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis with cysts (US) | Yes | 21 | No | ARPKD |
| 18 | Neonatal (anhydramnios) | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis with cysts (US) | Yes | N/A (RRT since 2.2 years of age) | Mild mental retardation | ARPKD |
| 19 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Hepato- splenomegaly, CHF (US), esophageal varices | Yes | N/A (RRT since 18.5 years of age) | No | ARPKD |
| 20 | Infantile (4 months) | Normal | Hyperechogenic kidneys | Normal sized with irregular structure (US) | Yes | N/A (RRT since 4,9 years of age) | No | ARPKD |
| 21 | Neonatal | Normal | Enlarged kidneys with multiple cysts | Hepato- splenomegaly, CHF (US), esophageal varices | Yes | N/A (RRT since 17.7 years of age) | No | ARPKD |
| 22 | Neonatal | Father ADPKD | Enlarged kidneys with multiple cysts | Normal | Yes | 87 | No | ADPKD-VEO |
| 23 | Infantile (2 months) | Normal | Enlarged kidneys with multiple cysts | Hepatomegaly, periportal fibrosis (US) | Yes | 95 | No | ARPKD |
| 24 | Infantile (10 months) | Normal | Normal sized hyperechogenic kidneys | Hepatomegaly, periportal fibrosis (US) | Yes | N/A (RRT since 7.6 years of age) | No | ARPKD |
| 25 | Childhood (12 years) | Normal | Normal sized kidneys with cysts | Normal | No | 57 | Polydactyly, obesity, learning difficulties | BBS |
| 26 | Childhood (5 years) | Normal | Normal sized kidneys with cysts (disappearance of cysts in one kidney during follow-up) | Normal | No | 98 | Encapsulated abdominal hematoma (extirpated) | ADPKD |
| 27 | Childhood (2 years) | Normal | Normal sized kidneys with cysts | Normal | No | 91 | No | ADPKD |
| 28 | Childhood (5 years) | Normal | Normal sized kidneys with cysts | Normal | No | 111 | No | ARPKD |
| 29 | Childhood (8 years) | Normal | Normal sized hyperechogenic kidneys with cysts | Normal | No | 18 | Autism | NPHP |
| 30 | Childhood (8 years) | Normal | Normal sized kidneys with cortical cysts | Normal | No | 127 | Pancreatic cysts | RCAD syndrome |
| 31 | Childhood (3 years) | Normal | Normal sized kidneys with cortical cysts | Normal | Yes | 116 | No | ADPKD |
ADPKD, autosomal dominant polycystic kidney disease; ARPKD, autosomal recessive polycystic kidney disease; BBS, Bardet-Biedl syndrome; CHF, congenital hepatic fibrosis; COMA, congenital oculomotor apraxia; eGFR, estimated glomerular filtration rate (at time of NGS) according to Schwartz formula; HTN, arterial hypertension; MRKH, Mayer-Rokitansky-Kuster-Hauser syndrome; NPHP, nephronophthisis; RCAD, renal cysts and diabetes syndrome; RDS, respiratory distress syndrome; RRT, renal replacement therapy; US, ultrasound; VEO, very early onset.