Congenital Hereditary Lymphoedema in the Dog * Part I . Clinical and Genetic Studies
نویسندگان
چکیده
Congenital hereditary lymphoedema has been reported in man (Milroy, 1892; Esterly, 1965), cattle (Donald, Deas, and Wilson, 1952; Morris, Blood, Sidman, Steel, and Whittem, 1954), and swine (Wiesner, 1960). In each species, oedema of variable degree involves primarily the extremities and may have little effect upon general health. The underlying cause of the oedema is poorly understood. This report deals with the clinical and genetic features of congenital hereditary lymphoedema in the descendants of one affected dog. Evidence from genetic studies and lymphangiograms in these animals indicates that the oedema results from a dominantly inherited developmental abnormality of the peripheral lymphatic system. In the rear limbs there is lymphatic obstruction at the level of the peripheral regional lymph nodes, and distal lymph channels are very dilated. The results of pathological studies are described in Part II of this report (Luginbiihl, Chacko, Patterson, and Medway, 1967).
منابع مشابه
Milroy Disease: A Case Report
Hereditary lymphoedema type I is a congenital onset primary lymphoedema with autosomal dominant inheritance, which is characterized by the swelling of the lower body. In this article, the authors report a case of a 32-year-old woman with repeating episodes of swollen limbs. Imaging studies and genetic study were carried out and a Milroy’s syndrome diagnosis was established. The patient started ...
متن کاملCongenital peritoneopericardial diaphragmatic hernia in a terrier dog
A one-month-old male terrier dog was referred in shock status with a history of anorexia, tachypnea, abdominal distention and progressive weight loss. Auscultation of right side of the lungs found enhanced respiratory noises. The thorough auscultation of the opposite side of the chest revealed the presence of typical intestinal sounds. Cardiac auscultation revealed muffled heart sounds and a di...
متن کاملCongenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
متن کاملTJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....
متن کاملImpaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been document...
متن کامل