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

Obeidova, Lena; Seeman, Tomas; Elisakova, Veronika; Reiterova, Jana; Puchmajerova, Alena; Stekrova, Jitka

doi:10.1186/s12881-015-0261-3

Table 1 Summary of mutations and clinical phenotype of patients within Grup A

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	Parental renal ultrasound	Renal ultrasound	Hepatic pathology (e.g. CHF) (Yes/No)^a	HTN^b	eGFR^c (ml/min/1.73 m²)
1567	R328Q G2705VfsX11 S2861G	P M M	Perinatal	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes (Caroli’s syndrome)	Yes (drugs)	N/A (after renal transplantation)
893	L1966TfsX4 G2705VfsX11 S2861G	P M M	Infantile (6 months)	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes (US)	Yes (drugs)	72
1358	T36M A2521FfsX59	M -	Perinatal	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes (US and MRI)	Yes (drugs)	22
1177	T36M I3553T	M P	Perinatal	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes - hyperechogenic structure (US)	Yes (drugs)	53
1359	R1624W R1775X	P M	Perinatal	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes (US)	Yes (drugs)	91
124	R1624W L1966TfsX4	Nonpaternity M	Infantile (3 years)	Normal	Hyperechogenic enlarged kidneys, small cysts in cortex, calicolithiasis suspicious, postnatal micro- and macrocysts	Yes (US)	Yes (ABPM, drugs since 3 y)	118
1085	L1966TfsX4 G2705VfsX11 S2861G	P M M	Perinatal	Normal	Enlarged kidneys with multiple cysts	Yes - hyperechogenic structure (US)	Yes (drugs)	52
1006	W937X R1624W	M -	Childhood (8 years)	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes - periportal fibrosis (US)	Yes (drugs)	N/A (after renal transplantation)
1479	G2705VfsX11 S2861G	P P	Infantile (15 months)	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes (US and also biopsy)	Yes (drugs)	76
605	T36M	M	Infantile (2 months)	Normal	Hyperechogenic enlarged kidneys with poor cortico-medullary differentiation	Yes (US)	Yes (drugs)	71

ABPM Ambulatory blood pressure monitoring, CHF Congenital hepatic fibrosis, CKD Cystic kidney disease, eGFR Estimated glomerular filtration rate, ESRD End-stage renal disease, HTN Hypertension, M Maternal, MRI Magnetic resonance imaging, N/A Not applicable, P Paternal, S-creatinine Serum creatinine, US Ultrasound, ^aCHF was diagnosed by US and/or MRI, or on the basis of biopsy or autopsy, ^bHypertension was defined as usage of antihypertensive drugs or/and blood pressure equal or above 95th percentile, ^ceGFR according to Schwartz (ml/min/1.73 m²)

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ISSN: 1471-2350

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