Table 1.

Phenotypes in probands with complete HNF1B deletions

ProbandsPrenatal Renal PhenotypePostnatal Renal PhenotypeDeletion Inheritance
1Normal ultrasoundLarge kidneys with numerous bilateral cysts, preterminal renal failure at 8 months; father with renal hypoplasia, GFR unknownND (parents not tested)
2Normal ultrasoundHyperechogenic and cystic kidneys, normal GFR at 6 yearsDe novo
3Bilateral hyperechogenic kidneysHyperechogenic, normal-sized kidneys, normal GFR at 10 monthsND (parents not tested)
4Bilateral hyperechogenic kidneysHyperechogenic kidneys, multiple microcysts, CRF (GFR 29 at 6 years); mother with renal cysts.Deletion in the mother
5Bilateral hyperechogenic kidneysHyperechogenic, normal-sized kidneys, microcysts, normal GFR at 5 yearsND (parents not tested)
6Unilateral hypoplasiaUnilateral hypoplasia with cysts, normal GFR at 2 yearsDe novo
Father and paternal grandmother with renal cysts
7Bilateral hyperechogenic kidneysSmall cystic kidneys, normal GFR at 3 yearsND (parents not tested)
8Bilateral hyperechogenic kidneysNormal-sized kidney with cortical cysts + left PUJO hyperuricemia, normal GFR at 5 yearsND (parents not tested)
9Unilateral MCD, contralateral cystsUnilateral MCD, cortical cysts on contralateral kidney, hyperuricemia, elevated liver enzymes, normal GFR at 10 yearsND (parents not tested)
10Bilateral hyperechogenic kidneysBilateral cortical cysts, normal-sized kidney, normal GFR at 17 months; father with renal hypodysplasia, GFR unknown; paternal grandfather has CRF; previous TOP for MCD and anamnios in the motherND (parents not tested)
11NDDiabetes, bicornuate uterus TOP in the past because of anamnios, normal GFR at adult age; diabetes in sisters and fatherDeletion in the father
12Bilateral hyperechogenic kidneysFew cysts, unknown GFRDe novo
13Unilateral MCD, contralateral hyperechogenic kidneyCysts in the single kidney, normal GFR at 9 yearsND (parents not tested)
14Bilateral hyperechogenic kidneys, one cortical cystHyperechogenic large (+2 SD) kidneys, CRF (unknown GFR) at 1 monthDe novo
15NDCystic kidney disease, uterine agenesis, imperforated vagina, mental retardation, normal GFR at 29 yearsND (parents not tested)
16Bilateral pelvic dilationBilateral PUJO, unilateral small cortical cysts, normal GFR at 14 monthsDe novo
17Bilateral hyperechogenic kidneysBilateral cortical cysts, normal GFR at 3 years; brother with pelvic kidney and PUJO; mother with normal kidneys and normal GFR, left hepatic agenesis, pancreas head hypoplasia, bicornuate uterusDeletion in the mother
18Bilateral hyperechogenic kidneysFew cysts, normal-sized hyperechogenic kidneys, neonatal renal failure, normal GFR at 20 months; mother with cysts and gestational diabetesDeletion in the mother
19Bilateral hyperechogenic kidneysBilateral cortical cysts, normal GFR at 5 years; mother with renal cysts and severe cholestasisDeletion in the mother
20NDBilateral cysts, normal GFR at 11 yearsND (parents not tested)
21Bilateral hyperechogenic kidneys, cortical cysts (MRI), diaphragmatic herniaDedifferentiated kidneys (54 and 58 mm) with cysts, acute renal failure at birth, GFR 40 ml/min per 1.73 m2 at 2 monthsDe novo
22Bilateral hyperechogenic kidneys, cortical cysts, oligoamniosTOP; renal histology showed cystic dilation of nearly all glomeruli with collapsed floculus, glomerular cysts were lined by fibrosis, interstitial fibrosis with rarefied tubulesDe novo
23NDBilateral hyperechogenic kidneys, cortical microcysts, normal GFR at 17 yearsDe novo
24NDBilateral cortical microcysts, bicornuate uterus, diabetes, normal GFR at 20 yearsND (parents not tested)
25NDBilateral hyperechogenic kidneys, cortical microcysts, normal GFR at 3 yearsND (parents not tested)
26Bilateral hyperechogenic kidneys, pelvic dilationBilateral hyperechogenic hypoplastic kidneys, unknown GFR, microcysts in motherDeletion in the mother
27NDBilateral hyperechogenic kidneys, cortical microcysts, CRF (GFR 65 at 30 years)ND (parents not tested)
28Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys CRF (GFR 40 at 3 years)ND (parents not tested)
29NDBilateral hyperechogenic kidneys cortical microcysts, normal GFR at 35 years; mother with type 2 diabetesND (parents not tested)
30NDBilateral hyperechogenic kidneys, cortical microcysts, normal GFR at 6 years; microcystic sole kidney in motherND (parents not tested)
31Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys, CRF (GFR 35 at 1 year)ND (parents not tested)
32Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys, diabetes at 17 years, normal GFR at 20 yearsND (parents not tested)
33Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys, normal GFR at 1 yearDe novo
34Unilateral MCD, other kidney hyperechogenicUnilateral MCD, other kidney hyperechogenic with pelvic dilation, normal GFR at 3 yearsDe novo
35Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys, normal GFR at 15 yearsDe novo
36Bilateral hyperechogenic kidneys + unilateral macrocystsBilateral hyperechogenic kidneys + unilateral macrocysts, CRF (GFR 55 at 3 years)De novo
37Unilateral MCD, other kidney hyperechogenicUnilateral MCD, hyperechogenic kidney, normal GFR at 6 yearsDe novo
38Bilateral hyperechogenic kidneys, cortical microcystsBilateral hyperechogenic kidneys, cortical microcysts, normal GFR at 6 yearsDe novo
39Unilateral agenesisSingle hyperechogenic kidney, cortical microcysts, normal GFR at 10 yearsND (parents not tested)
40Unilateral agenesis, hyperechogenic kidney with microcystsSingle hyperechogenic kidney, microcysts, CRF (GFR 23 at 1 year); single kidney with cysts in the mother (GFR 75 at 30 years)Deletion in the mother
41Bilateral hyperechogenic kidneysBilateral hyperechogenic kidneys, unilateral VUR, unknown GFRND (parents not tested)
42NDBilateral hyperechogenic kidneys, cortical microcysts, normal GFR at 3 yearsND (parents not tested)
  • CRF, chronic renal failure; MRI, magnetic resonance imaging; ND, not done; PUJO, pelvi-ureteric junction obstruction; VUR, vesicoureteral reflux.