FH deficiency is also associated with another rare kidney disease, Membranoproliferative Glomerulonephritis (MPGN). Whereas HUS patients show a wide range of FH plasma levels, with the majority showing Type II phenotypes, the majority of patients diagnosed with MPGN II show decreased FH plasma levels (Type I phenotypes).
The information contained on this web site is provided for scientific research purposes only.
We do not give medical advice or recommend any particular treatment for specific individuals.
Here are several links for patient information on MPGN:
This lack of plasma FH leads to hypocomplementemia, progressive glomerulonephritis, mesangial cell proliferation and an increase in mesangial matrix size. In contrast, the FH missense mutations seen in the majority of HUS patients rarely result in hypocomplementemia, and lead to dysfunction FH protein present in normal amounts in plasma. MPGN is observed in patients with a complete FH deficiency (compound heterozygous or homozygous) where there is little or no FH in plasma.
These are the published MPGN mutations within human FH.
| Arg127Leu (109) | FH | EINYRECDT | |
| Nucleotide: | c.380G>T | Mutation Type: | Missense |
| Alternative Syntax: | Condition: | MPGN | |
| Domain: | SCR 2 | Phenotype: | I |
| Position: | E () | Ref Type: | Full |
| Comments: | |||
| Patient Info: | + | ||
| Lys224Del (206) | FH | PISQKIIYK | |
| Nucleotide: | c.670_672delAAG | Mutation Type: | Deletion |
| Alternative Syntax: | Condition: | MPGN | |
| Domain: | SCR 4 | Phenotype: | II |
| Position: | C () | Ref Type: | Full |
| Comments: | |||
| Patient Info: | + | ||
| Gly261Asp (243) | FI | KACQGKGFH | |
| Nucleotide: | c.782G>A | Mutation Type: | Missense |
| Alternative Syntax: | G243D |
Condition: | MPGN |
| Domain: | LDLR 2 | Phenotype: | II |
| Position: | S (Coil-β1) | Ref Type: | Full |
| Comments: | Mutation does not seem to affect the function of FI in complement regulation (Nilsson et al., 2007). | ||
| Patient Info: | + | ||
| Cys431Ser (413) | FH | TTVTCMENG | |
| Nucleotide: | c.1292G>C | Mutation Type: | Missense |
| Alternative Syntax: | Condition: | MPGN | |
| Domain: | SCR 7 | Phenotype: | I |
| Position: | E () | Ref Type: | Full |
| Comments: | |||
| Patient Info: | + | ||
| Cys673Ser (655) | FH | NKIQCVDGE | |
| Nucleotide: | c.2017T>A | Mutation Type: | Missense |
| Alternative Syntax: | Condition: | MPGN | |
| Domain: | SCR 11 | Phenotype: | I |
| Position: | E () | Ref Type: | Full |
| Comments: | This residue is also mutated in a heterozygous HUS patient(Dragon-Durey 2004). | ||
| Patient Info: | + | ||
| Cys959Tyr (941) | FH | VTYKCFEGF | |
| Nucleotide: | c.2876G>A | Mutation Type: | Missense |
| Alternative Syntax: | Cys991Tyr |
Condition: | MPGN |
| Domain: | SCR 16 | Phenotype: | I |
| Position: | C () | Ref Type: | Full |
| Comments: | |||
| Patient Info: | + | ||
There are also two porcine mutations that have been published (Hegasy et al, 2002).
| Description | Link | National Kidney Organisation | www.kidney.org | Medline Plus Dictionary | www.nlm.nih.gov.uk |
|---|