Systemic sclerosis
Autoimmune connective-tissue disease with fibrosis of skin and internal organs and vasculopathy. წაიკითხეთ სრულად → news.gmj.ge
Stickler syndrome
Collagenopathy with ocular, auditory, skeletal and orofacial features. წაიკითხეთ სრულად → news.gmj.ge
Stargardt disease
Commonest inherited macular dystrophy of juvenile onset. წაიკითხეთ სრულად → news.gmj.ge
Severe combined immunodeficiency
Profound T-cell (and often B/NK) deficiency presenting with life-threatening infections in infancy; newborn-screened. წაიკითხეთ სრულად → news.gmj.ge
Short bowel syndrome
Malabsorption following extensive small-bowel loss, often requiring parenteral nutrition. წაიკითხეთ სრულად → news.gmj.ge
Sjogren syndrome
Autoimmune exocrinopathy causing dry eyes and mouth, with systemic and lymphoma risk. წაიკითხეთ სრულად → news.gmj.ge
Rhabdomyosarcoma
Commonest soft-tissue sarcoma of childhood arising from skeletal-muscle precursors. წაიკითხეთ სრულად → news.gmj.ge
Sarcoidosis
Multisystem granulomatous disease most often affecting lungs and lymph nodes. წაიკითხეთ სრულად → news.gmj.ge
Rett syndrome
An X-linked neurodevelopmental disorder almost exclusively affecting girls; a targeted therapy is now approved. წაიკითხეთ სრულად → news.gmj.ge
Retinoblastoma
Commonest intraocular childhood cancer arising from the retina. წაიკითხეთ სრულად → news.gmj.ge
Retinitis pigmentosa
Group of inherited retinal dystrophies with progressive rod-cone photoreceptor degeneration. წაიკითხეთ სრულად → news.gmj.ge
Pseudoxanthoma elasticum
Ectopic mineralization of elastic fibers affecting skin, eyes and vessels. წაიკითხეთ სრულად → news.gmj.ge
Pulmonary alveolar proteinosis
Accumulation of surfactant in alveoli impairing gas exchange, usually autoimmune. წაიკითხეთ სრულად → news.gmj.ge
Progressive supranuclear palsy
Tauopathy with vertical gaze palsy, postural instability and falls, axial rigidity. წაიკითხეთ სრულად → news.gmj.ge
Progressive familial intrahepatic cholestasis
Inherited cholestatic disorders presenting in infancy with severe pruritus and progressive liver disease. წაიკითხეთ სრულად → news.gmj.ge
Primary ciliary dyskinesia
Defective ciliary motility causing chronic respiratory infections and organ laterality defects. წაიკითხეთ სრულად → news.gmj.ge
Primary hyperoxaluria
Hepatic overproduction of oxalate causing recurrent stones, nephrocalcinosis and systemic oxalosis. წაიკითხეთ სრულად → news.gmj.ge
Primary sclerosing cholangitis
Progressive fibro-obliterative cholangitis with bile-duct strictures, linked to IBD and cholangiocarcinoma risk. წაიკითხეთ სრულად → news.gmj.ge
Primary biliary cholangitis
Autoimmune destruction of intrahepatic bile ducts leading to cholestasis and cirrhosis. წაიკითხეთ სრულად → news.gmj.ge
Prader-Willi/Angelman region disorders
Smith-Magenis syndrome: deletion disorder with sleep disturbance and behavioral features. წაიკითხეთ სრულად → news.gmj.ge
Prader-Willi syndrome
A genomic-imprinting disorder; growth hormone therapy and strict dietary management are central to care. წაიკითხეთ სრულად → news.gmj.ge
Polycythemia vera
Myeloproliferative neoplasm with erythrocytosis and thrombosis risk. წაიკითხეთ სრულად → news.gmj.ge
Pheochromocytoma and paraganglioma
Catecholamine-secreting tumors of adrenal medulla or extra-adrenal paraganglia. წაიკითხეთ სრულად → news.gmj.ge
Pemphigus vulgaris
Autoimmune blistering disease with intraepidermal acantholysis affecting skin and mucosa. წაიკითხეთ სრულად → news.gmj.ge
Phelan-McDermid syndrome
Deletion involving SHANK3 with developmental delay, absent speech and autism features. წაიკითხეთ სრულად → news.gmj.ge
Paroxysmal nocturnal hemoglobinuria
An acquired clonal disorder of complement regulation; terminal complement and proximal C3 inhibitors control haemolysis. წაიკითხეთ სრულად → news.gmj.ge
Paget disease of bone
Disordered bone remodeling causing enlarged, weak bones and deformity. წაიკითხეთ სრულად → news.gmj.ge
Osteogenesis imperfecta
A heritable collagen disorder; bisphosphonates plus physiotherapy and orthopaedic care reduce fractures and improve function. წაიკითხეთ სრულად → news.gmj.ge
Osteosarcoma
Commonest primary bone malignancy, peaking in adolescence. წაიკითხეთ სრულად → news.gmj.ge
Neurofibromatosis type 2
Schwannoma-predisposition with bilateral vestibular schwannomas, meningiomas and ependymomas. წაიკითხეთ სრულად → news.gmj.ge
Neuromyelitis optica spectrum disorder
An autoimmune astrocytopathy distinct from multiple sclerosis; several targeted relapse-prevention therapies are approved. წაიკითხეთ სრულად → news.gmj.ge
Noonan syndrome
A RAS-MAPK pathway disorder; care is multidisciplinary, with growth hormone used for short stature in selected children. წაიკითხეთ სრულად →…
Neurofibromatosis type 1
A common tumour-predisposition syndrome; a targeted therapy is approved for symptomatic inoperable plexiform neurofibromas. წაიკითხეთ სრულად → news.gmj.ge
Neuroblastoma
Embryonal tumor of the sympathetic nervous system, commonest extracranial solid tumor of childhood. წაიკითხეთ სრულად → news.gmj.ge
Netherton syndrome
Severe ichthyosiform disorder with hair-shaft defect and atopy. წაიკითხეთ სრულად → news.gmj.ge
Nephronophthisis
Commonest genetic cause of end-stage renal disease in children, a ciliopathy. წაიკითხეთ სრულად → news.gmj.ge
Myotubular myopathy
Severe congenital myopathy with neonatal hypotonia and respiratory failure from myotubularin deficiency. წაიკითხეთ სრულად → news.gmj.ge
Narcolepsy with cataplexy
Chronic sleep disorder with excessive daytime sleepiness and cataplexy from orexin/hypocretin deficiency. წაიკითხეთ სრულად → news.gmj.ge
Myotonic dystrophy
Multisystem dystrophy with myotonia, weakness, cataracts, cardiac conduction defects; commonest adult-onset MD. წაიკითხეთ სრულად → news.gmj.ge
Multiple system atrophy
Progressive neurodegeneration with autonomic failure plus parkinsonism or cerebellar ataxia. წაიკითხეთ სრულად → news.gmj.ge
Myelodysplastic syndromes
Clonal marrow disorders with ineffective hematopoiesis, cytopenias and leukemia risk. წაიკითხეთ სრულად → news.gmj.ge
Mucopolysaccharidosis type IVA
Keratan sulfate storage with severe skeletal dysplasia and preserved intelligence. წაიკითხეთ სრულად → news.gmj.ge
Mucopolysaccharidosis type VI
Arylsulfatase B deficiency with skeletal dysplasia and organomegaly, intelligence usually preserved. წაიკითხეთ სრულად → news.gmj.ge
Multiple endocrine neoplasia type 1
Tumor syndrome of parathyroid, pancreatic islet and pituitary glands. წაიკითხეთ სრულად → news.gmj.ge
Multiple osteochondromas
Multiple benign bony outgrowths (osteochondromas) with deformity and small malignancy risk. წაიკითხეთ სრულად → news.gmj.ge
Moyamoya disease
Progressive stenosis of internal carotid arteries with compensatory collateral vessels prone to stroke. წაიკითხეთ სრულად → news.gmj.ge
Mucopolysaccharidosis type I
Lysosomal storage from alpha-L-iduronidase deficiency with coarse features, organomegaly and skeletal dysplasia. წაიკითხეთ სრულად → news.gmj.ge
Mucopolysaccharidosis type II
Iduronate-2-sulfatase deficiency with progressive multisystem storage; X-linked. წაიკითხეთ სრულად → news.gmj.ge
Mitochondrial disease (MELAS)
Disorders of oxidative phosphorylation affecting high-energy tissues (brain, muscle, heart). წაიკითხეთ სრულად → news.gmj.ge
Maple syrup urine disease
An inborn error managed chiefly by strict dietary control, with emergency protocols to prevent crises. წაიკითხეთ სრულად → news.gmj.ge