Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.

Abstract

SUMMARY Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. The risk for HOOD patients to have a child with HOOD who will develop renal failure cannot easily be deduced from published pedigrees. We have studied a large family with 30 patients with HOOD and have analysed 34 kindreds with HOOD nephropathy from published reports, comprising 213 patients. For a patient with HOOD from a family in which HOOD nephropathy occurs, the risk of having a child with HOOD nephropathy is about 1:4; the risk of having a child in whom renal failure will develop is about 1:10.

Early prenatal diagnosis of nail-patella syndrome by ultrasonography.

“…8 The importance of making the diagnosis of NPS early stems from its associated conditions. From a large study of a family with 30 members with NPS, Looij and colleagues 11 concluded that the risk of having a child with NPS nephropathy was one in four and the risk of having a child in whom renal failure would develop was one in 10. Although renal failure commonly occurs after the fourth decade of life, fatality at a young age has been described.…”

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

“…generation family (family 26) with high prevalence of nephropathy originally described in 1988. 19 The study was approved by the local medical ethics committee and written informed consent was obtained from all participants or their parents. All patients were examined at the Radboud University Nijmegen Medical Centre.…”

Eye and Kidney

“…Taguchi et al (114) demonstrated that characteristic ultrastructural changes in the glomerulus can be present, even in patients without apparent clinical renal involvement. From study of a large family with 30 patients with NPS (which the authors referred to as HOOD), Looij et al (115) concluded that a person with NPS has a risk of about 1 in 4 of having a child with NPS nephropathy and a risk of about 1 in 10 of having a child in whom renal failure will develop. The nail-patella locus and the ABO blood group locus are linked.…”