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Table 2 Summary of mutations and clinical phenotype of patients within Grup B

From: Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

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

  1. CHF Congenital hepatic fibrosis, M Maternal, N/A Not applicable, P Paternal, TOP Termination of pregnancy, US Ultrasound, aHypertension was defined as usage of antihypertensive drugs or/and blood pressure equal or above 95th percentile,beGFR according to Schwartz (ml/min/1.73 m2)