Multisystem Health Dictionary

A rare, multisystem disorder with recurrent mouth ulcers and genital ulcers and inflammation of the eyes, skin joints, blood vessels, brain, and intestines. The cause of Behçet’s syndrome is unknown, but it is strongly associated with a genetically determined histocompatability antigen, -B51. Treatment is difficult and may require corticosteroid and immunosuppressant drugs. The condition often becomes long-term.... behçet’s syndrome

(glomerular nephritis, GN) n. inflammation of the glomeruli, although in practice the term is used for a number of glomerular conditions lacking microscopical signs of inflammation. For instance, *membranous nephropathy is often referred to as membranous glomerulonephritis. GN may be a primary disease, restricted in its clinical manifestations to the kidney, or part of a multisystem disorder, such as systemic *lupus erythematosus or *vasculitis. Its presentation may be acute, with a *nephritic or *nephrotic syndrome; subacute, with rapidly declining renal function over a period of days or weeks; or chronic, with signs of the disease picked up on routine medical examination. Abnormalities of urine analysis are to be expected, with blood, protein, and casts present in variable amounts. Arterial hypertension is a common associated finding. GN is classified according to the different patterns of histological injury seen on renal biopsy specimens; these are examined by light and electron microscopy and by immunofluorescent studies.... glomerulonephritis

either of two inherited disorders in which renal cysts are a common feature. Autosomal recessive polycystic kidney disease (ARPKD) occurs in about 1 in 20,000 live births. It is due to a single mutation on chromosome 6 for the gene encoding the protein fibrocystin. The majority of cases are diagnosed before or at birth. The most severely affected fetuses have enlarged kidneys and *oligohydramnios due to poor fetal renal output. These fetuses develop the ‘Potter’ phenotype with characteristic facies, pulmonary hypoplasia, and deformities of the spine and limbs. Those surviving the neonatal period (50–70%) develop varying degrees of renal impairment but this may not proceed to end-stage until early adulthood.

Autosomal dominant polycystic kidney disease (ADPKD) affects between 1 in 400 and 1 in 1000 individuals and is one of the most common hereditary diseases. Two types have been defined. ADPKD 1 is the commonest and responsible for about 85% of cases. It is due to a mutation in the PKD1 gene on chromosome 16, which encodes polycystin 1, an *ion-channel-regulating protein. ADPKD2 is due to a mutation in the PKD2 gene on chromosome 4, which encodes the protein polycystin 2, a calcium-release channel. ADPKD2 tends to be a milder disease with later presentation.

ADPKD is a multisystem disorder that is also associated with cyst formation in other organs (particularly the liver), cardiovascular disorders, and colonic diverticular disease. Renal disease presents in early adult life with haematuria, loin pain, urinary tract infection, hypertension, renal stone disease, or the finding of a mass in the abdomen. Other cases are identified by family contact tracing; the findings of a few cysts on renal ultrasonography in a young adult with a family history of ADPKD is highly suggestive of the disease. Renal disease is progressive and about 50% of patients will have reached end-stage by the time they enter their seventh decade. The progress of the renal failure can be slowed by good blood pressure control. In the UK, patients with ADPKD are responsible for 5–10% of the total on renal replacement therapy.

There are a number of separate rare autosomal dominant conditions other than ADPKD1 and ADPKD 2 that can present with polycystic kidneys. These include *von Hippel-Lindau disease and *tuberous sclerosis.... polycystic disease of the kidneys

n. thickening of the skin, either localized (see morphoea) or generalized, resulting in waxy ivory-coloured areas. Treatment is unsatisfactory, but spontaneous resolution may occur. Scleroderma is thought to be an *autoimmune disease. *Systemic sclerosis is a related multisystem disorder.... scleroderma