Nail-patella syndrome and renal involvement. Description of three cases and literature review

Antonio Granata, G. Nori, R. Ravazzolo, M. Marini, S. Castellino, E. Sicurezza, C. E. Fiore, R. Mignani

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. It is characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows and iliac horns. Less frequently renal and ocular damages occur. The abnormal gene in NPS is located at the distal end of the long arm of Chromosome 9. Mutations in the human LMX1B gene have been demonstrated to be responsible for NPS. It encodes a LIM-homeodomain transcription factor which plays an important role in limb development in vertebrates. Extensive mutation analysis of different NPS families by different groups failed to demonstrate any genotype-phenotype correlation. Renal involvement occurs in 30 - 60% of patients and presents with proteinuria and/or microscopic hematuria, edema, hypertension. Progression to nephrotic syndrome occurs in less than 20% of patients, and renal failure in about 10% of NPS patients requiring dialysis and/or transplantation. We report three cases of NPS with different degrees of renal involvement and present a review of the literature on this rare hereditary condition.

Original languageEnglish
Pages (from-to)377-382
Number of pages6
JournalClinical Nephrology
Volume69
Issue number5
Publication statusPublished - May 2008

Fingerprint

Nail-Patella Syndrome
Kidney
Chromosomes, Human, Pair 9
Mutation
Nephrotic Syndrome
Genetic Association Studies
Hematuria
Horns
Elbow
Nails
Proteinuria
Genes
Renal Insufficiency
Vertebrates
Dialysis
Edema
Transcription Factors
Extremities
Transplantation
Hypertension

Keywords

  • Chronic renal failure
  • Hereditary osteo-onychodysplasia
  • Hereditary renal disease
  • Nail-patella syndrome

ASJC Scopus subject areas

  • Nephrology

Cite this

Granata, A., Nori, G., Ravazzolo, R., Marini, M., Castellino, S., Sicurezza, E., ... Mignani, R. (2008). Nail-patella syndrome and renal involvement. Description of three cases and literature review. Clinical Nephrology, 69(5), 377-382.

Nail-patella syndrome and renal involvement. Description of three cases and literature review. / Granata, Antonio; Nori, G.; Ravazzolo, R.; Marini, M.; Castellino, S.; Sicurezza, E.; Fiore, C. E.; Mignani, R.

In: Clinical Nephrology, Vol. 69, No. 5, 05.2008, p. 377-382.

Research output: Contribution to journalArticle

Granata, A, Nori, G, Ravazzolo, R, Marini, M, Castellino, S, Sicurezza, E, Fiore, CE & Mignani, R 2008, 'Nail-patella syndrome and renal involvement. Description of three cases and literature review', Clinical Nephrology, vol. 69, no. 5, pp. 377-382.
Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E et al. Nail-patella syndrome and renal involvement. Description of three cases and literature review. Clinical Nephrology. 2008 May;69(5):377-382.
Granata, Antonio ; Nori, G. ; Ravazzolo, R. ; Marini, M. ; Castellino, S. ; Sicurezza, E. ; Fiore, C. E. ; Mignani, R. / Nail-patella syndrome and renal involvement. Description of three cases and literature review. In: Clinical Nephrology. 2008 ; Vol. 69, No. 5. pp. 377-382.
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