Your browser doesn't support javascript.
loading
Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.
Banno, Yoshinori; Ikemiyagi, Masako; Hamada, Riku; Nozu, Kandai; Matsuoka, Kentaro; Kamimaki, Isamu.
Afiliación
  • Banno Y; Department of Pediatrics, National Hospital Organization Saitama Hospital, Wako, Saitama, Japan. yoshinoribanno44@gmail.com.
  • Ikemiyagi M; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan. yoshinoribanno44@gmail.com.
  • Hamada R; Department of Pediatrics, National Hospital Organization Saitama Hospital, Wako, Saitama, Japan.
  • Nozu K; Department of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Matsuoka K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Kamimaki I; Department of Pathology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Pediatr Nephrol ; 39(9): 2627-2631, 2024 Sep.
Article en En | MEDLINE | ID: mdl-38478172
ABSTRACT
Nail-patella syndrome (NPS) is an autosomal dominant disease caused mostly by mutations in the LMX1B gene and is characterized by hypoplastic nails, hypoplastic patella, elbow deformities, glaucoma, and nephropathy, sometimes leading to kidney failure. The combination and the severity of symptoms vary greatly from patient to patient. Because a kidney biopsy may show nonspecific findings, patients with nephropathy alone may not be diagnosed without undergoing genetic testing. We examined the case of a 6-year-old girl with persistent high proteinuria who was not diagnosed by kidney biopsy but had a diagnosis of a de novo mutation in the LMX1B gene following genetic testing. Retrospectively, only the thumbs showed triangular lunulae, while the third and fourth fingers lacked skin creases over the distal interphalangeal joints, which is subtle but characteristic of NPS. Notifying pediatric nephrologists of these findings can help avoid unnecessary kidney biopsies and lead to early detection of the disease.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pulgar / Factores de Transcripción / Proteínas con Homeodominio LIM / Mutación / Síndrome de la Uña-Rótula Límite: Child / Female / Humans Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pulgar / Factores de Transcripción / Proteínas con Homeodominio LIM / Mutación / Síndrome de la Uña-Rótula Límite: Child / Female / Humans Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Alemania