| 词条 | Nail–patella syndrome | ||
| 释义 |
| name = Nail–patella syndrome | image = Nailpatellakleur1fotojanwij.jpg | caption = Nail of a patient with nail–patella syndrome | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.[1]{{rp|666}} Those affected by NPS may have one or more affected areas of the body, and its severity varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome.[2] Diagnosis of NPS can be made at birth, but is common for it to remain undiagnosed for several generations. While there is no cure available for NPS, treatment is available and recommended. SymptomsThe skeletal structures of individuals who have this disorder may have pronounced deformities. As reported by several medical doctors, the following features are commonly found in people who suffer from nail–patella syndrome:[3] Bones and joints
Kidney issues may arise such as proteinuria and nephritis. Proteinuria is usually the first sign of renal involvement and either rapidly or years after suffering from asymptomatic proteinuria, renal failure occurs in around 5% of NPS patients. Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear.[4] GeneticsThe Nail–patella syndrome is inherited via autosomal dominancy linked to aberrancy on human chromosome 9's q arm (the longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for the disorder to be expressed in the offspring, meaning the chance of getting the disorder from an affected heterozygous parent is 50%. The frequency of the occurrence is 1/50,000.{{Citation needed|date=November 2009}} The disorder is linked to the ABO blood group locus. It is associated with random mutations in the LMX1B gene. Studies have been conducted and 83 mutations of this gene have been identified.[5][5][6] DiagnosisThe hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Sometimes, this disease causes the affected person to have either no thumbnails or a small piece of a thumbnail on the edge of the thumb. The lack of development, or complete absence of fingernails results from the loss of function mutations in the LMX1B gene. This mutation may cause a reduction in dorsalising signals, which then results in the failure to normally develop dorsal specific structures such as nails and patellae.[7] Other common abnormalities include elbow deformities, abnormally shaped pelvic (hip) bones, and kidney (renal) disease. TreatmentTreatment for NPS varies depending on the symptoms observed.
See also
References1. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}. 2. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 786-7. {{ISBN|0-7216-2921-0}}. 3. ^Choczaj-Kukula, A., & Janniger, C. K. (2009). Nail–patella syndrome. In emedicine: WebMD. Retrieved October 11, 2009, from WebMD database. 4. ^{{cite journal |author=Buatti Chris |title=Nail-Patella Syndrome |journal=Consultant 360 |volume=47 |issue=8 |date=August 2007 |url= http://www.consultant360.com/content/nail-patella-syndrome}} 5. ^{{cite journal |vauthors=Towers AL, Clay CA, Sereika SM, McIntosh I, Greenspan SL |title=Skeletal integrity in patients with nail patella syndrome |journal=J. Clin. Endocrinol. Metab. |volume=90 |issue=4 |pages=1961–5 |date=April 2005 |pmid=15623820 |doi=10.1210/jc.2004-0997 |url=http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=15623820}} 6. ^{{cite journal|author1=Romero P. |author2=Sanhueza F. |author3=Lopez P. |author4=Reyes L. |author5=Herrera L. |title=c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma|journal=Molecular Vision|date=2011|volume=17|issue=|pages=1929–39|pmid=21850167|doi= |pmc=3154131}} 7. ^{{cite journal |author=Wright M J |title=Achondroplasia and nail-patella syndrome: the compound phenotype |journal=Journal of Medical Genetics |volume=37 |issue=9 |pages=25 |doi=10.1136/jmg.37.9.e25.2000 |url=http://jmg.bmj.com/content/37/9/e25.full}} 8. ^1 {{cite journal |vauthors=Sweeney E, Fryer A |title=Nail patella syndrome: a review of the phenotype aided by developmental biology|journal=Journal of Medical Genetics |volume=40 |issue=3 |pages=153–162 |doi=10.1136/jmg.2003 |url=http://jmg.bmj.com/content/40/3/153.full#aff-2}} External links{{Medical resources| DiseasesDB = 8773 | ICD10 = {{ICD10|Q|87|2|q|80}} (ILDS Q87.230) | ICD9 = {{ICD9|756.89}} | ICDO = | OMIM = 161200 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 1546 | eMedicine_mult = {{eMedicine2|derm|813}} | Orphanet = 2614 }}
7 : Syndromes affecting the kidneys|Rare diseases|Conditions of the skin appendages|Autosomal dominant disorders|Transcription factor deficiencies|Patella|Syndromes affecting bones |
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