Table 1.

Phenotypic presentation of 152 children with suspected isolated nephronophthisis or nephronophthisis-related ciliopathies in the Nephronophthisis Registry

PhenotypeNPHP1, n=60All Genotypes Other Than NPHP1, n=92NPHP3, n=4NPHP4, n=5NPHP5/IQCB1, n=5NPHP6/CEP290, n=5NPHP11/TMEM67, n=6IFT140, n=4
Kidney
 Onset of renal symptoms, yr3–160–76–1413–257–172–153–16
 Polyuria, %633650604020170
 Urinary concentrating deficiency, %402625404020170
 Proteinuria, %323925202001775
 Hematuria, %1811000000
 Anemia, %88551008080605050
 Failure to thrive, %2026040040330
 Growth retardation, %283250600603350
Liver
 Onset of liver symptoms, yr10–130–10---1–38
 Total, %8a41a10000010025
 Hepatosplenomegaly, %3291000001000
 Elevated liver enzymes, %52710000010025
 Cholestasis, %01050000330
 Thrombopenia, %31150000330
 Ascites, %032500000
 Esophageal varices, %080000170
 Hepatic pruritus, %2250000170
CNS
 Onset of neurologic symptoms, yr1–12-690–10–38
 Total, %25b47b020201008325
 Developmental delay, %1940020201008325
 Seizures, %780020000
 Ataxia, %821020080830
 Cerebellar vermis hypoplasia, %320000100500
 Muscle weakness, %340000330
 Microcephaly, %01000000
Eyes
 Onset of eye symptoms, yr1–179-0–10–70–11–9
 Total, %415525010010083100
 Visual impairment, %23c41c2501001005075
 Nystagmus, %1226001001003375
 COMA, %1090000500
 Night blindness, %21100600050
 Retinitis pigmentosa, %51800100200100
 Visual field restriction, %5120010000100
 Astigmatism, %1712250400170
 Strabism, %8900200330
 Cataract, %220020000
 Coloboma, %070000330
  • For practical reasons, we stratified the cohort into children with NPHP1 (n=60) and children without NPHP1 (n=92). Cell contents are the percentages of participants in a given column (genotype) for which the symptom listed in the row header was reported or the ranges of ages over which these symptoms initially presented. Whenever possible, we further classified the children without NPHP1 according to their gene defect. CNS, central nervous system; COMA, congenital oculomotor apraxia.

  • a Statistical significance: liver involvement was significantly more frequent in the non-NPHP1 group compared with the NPHP1 cohort (41% versus 8%; P<0.001).

  • b Statistical significance: presence of neurologic symptoms was significantly more frequent in the non-NPHP1 group compared with the NPHP1 cohort (47% versus 25%; P<0.01).

  • c Statistical significance: visual loss was significantly more frequent in the non-NPHP1 group compared with the NPHP1 cohort (41% versus 23%; P=0.02).