Atypical hemolytic uremic syndrome: Difference between revisions

Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening, genetic disease that predominantly affects the kidney. It is characterized by the triad of hemolytic anemia, thrombocytopenia, and renal failure.

Etiology

aHUS is primarily caused by mutations in genes that regulate the complement system, a part of the body's immune system. The most common mutations are found in the genes for Factor H, Factor I, and Membrane Cofactor Protein (MCP). These mutations lead to uncontrolled activation of the complement system, resulting in damage to the endothelial cells lining the blood vessels, particularly in the kidneys.

Clinical Presentation

Patients with aHUS often present with symptoms of fatigue, pallor, and decreased urine output, indicative of anemia and renal failure. Laboratory findings typically show evidence of hemolytic anemia, thrombocytopenia, and elevated creatinine levels, reflecting kidney damage.

Diagnosis

Diagnosis of aHUS is based on clinical presentation, laboratory findings, and genetic testing. It is important to differentiate aHUS from other forms of Thrombotic Microangiopathies (TMAs), such as Shiga toxin-producing E. coli Hemolytic Uremic Syndrome (STEC-HUS) and Thrombotic Thrombocytopenic Purpura (TTP), as the treatment and prognosis differ significantly.

Treatment

The mainstay of treatment for aHUS is Eculizumab, a monoclonal antibody that inhibits the terminal complement pathway. This drug has been shown to improve renal function and hematologic parameters in patients with aHUS. In severe cases, renal transplantation may be considered.

Prognosis

Without treatment, aHUS can lead to end-stage renal disease and is associated with high mortality. However, with early diagnosis and appropriate treatment, the prognosis can be significantly improved.

NIH genetic and rare disease info

NIH info on Atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Atypical hemolytic uremic syndrome

A-Z list of rare diseases	* 0-9 \| A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see	* Comprehensive list of genetic and rare diseases
Resources	* NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

Kidney diseases

General	* Kidney Nephrology Renal physiology Urine
Congenital	* Polycystic kidney disease Renal dysplasia Alport syndrome Bartter syndrome
Glomerular	* Glomerulonephritis IgA nephropathy Lupus nephritis Diabetic nephropathy
Tubulointerstitial	* Pyelonephritis Interstitial nephritis Nephrolithiasis
Renal vascular	* Renal artery stenosis Renovascular hypertension

This kidney disease related article is a stub. You can help WikiMD by expanding it.

Hematologic diseases

Red blood cell disorders	* Anemia Iron-deficiency anemia Vitamin B12 deficiency Folate deficiency Hemolytic anemia Sickle-cell disease Thalassemia Polycythemia Polycythemia vera
White blood cell disorders	* Leukopenia Leukocytosis Leukemia Acute lymphoblastic leukemia Chronic lymphocytic leukemia Acute myeloid leukemia Chronic myeloid leukemia Lymphoma Hodgkin lymphoma Non-Hodgkin lymphoma Myeloma
Platelet disorders	* Thrombocytopenia Thrombocythemia Hemophilia Von Willebrand disease
Coagulation disorders	* Disseminated intravascular coagulation Deep vein thrombosis Pulmonary embolism
Bone marrow disorders	* Aplastic anemia Myelodysplastic syndromes Myelofibrosis

This hematology related article is a stub.

This article is a medical stub. You can help WikiMD by expanding it!
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