Glomerular deposition disease: Difference between revisions
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==Classification== | ==Classification== | ||
[[Glomerular deposition disease]]<nowiki/>s are classified in 5 types of diseases: | [[Glomerular deposition disease]]<nowiki/>s are classified in 5 types of diseases: | ||
# LCDD | |||
# [[Amyloidosis]] | # [[Amyloidosis]] | ||
# [[Fabry's disease]] | # [[Fabry's disease]] | ||
# Fibrillary immuno-tactoid glumerulopathy: The diagnosis is based on [[pathology]] finding. [[Infiltration (medical)|Infiltration]] of fibrills make glomerular structures in the kidney. Fibrills are larger than [[amyloid]] fibrils. Patients usually asymtomatic but, sometimes have [[proteinuria]] and [[hematuria]]. Prognosis is poor and [[ESRD]] will happen in half of the patients <ref name="pmid18045849">{{cite journal |vauthors=Alpers CE, Kowalewska J |title=Fibrillary glomerulonephritis and immunotactoid glomerulopathy |journal=J. Am. Soc. Nephrol. |volume=19 |issue=1 |pages=34–7 |date=January 2008 |pmid=18045849 |doi=10.1681/ASN.2007070757 |url=}}</ref>. | # Fibrillary immuno-tactoid glumerulopathy: The diagnosis is based on [[pathology]] finding. [[Infiltration (medical)|Infiltration]] of fibrills make glomerular structures in the kidney. Fibrills are larger than [[amyloid]] fibrils. Patients usually asymtomatic but, sometimes have [[proteinuria]] and [[hematuria]]. Prognosis is poor and [[ESRD]] will happen in half of the patients <ref name="pmid18045849">{{cite journal |vauthors=Alpers CE, Kowalewska J |title=Fibrillary glomerulonephritis and immunotactoid glomerulopathy |journal=J. Am. Soc. Nephrol. |volume=19 |issue=1 |pages=34–7 |date=January 2008 |pmid=18045849 |doi=10.1681/ASN.2007070757 |url=}}</ref>. | ||
| Line 23: | Line 23: | ||
=== Pathogenesis: === | === Pathogenesis: === | ||
Deposits of abnormal or extra production of proteins and fibrills in the glomeruls cause glomerular deposition diseases. | Deposits of abnormal or extra production of proteins, lipids and fibrills in the glomeruls cause glomerular deposition diseases. | ||
-In LCDD: | |||
[[light chain]]<nowiki/>s are small [[polypeptides]] produced by [[B lymphocyte]]<nowiki/>s.They are sub units of [[antibodies]]. [[Kappa-chain immunoglobulin|Kappa]] and Lambda are two types of [[light chain]]<nowiki/>s. Excess production of [[Kappa-chain immunoglobulin|Kappa]] chain and accumulation in the [[Renal|renal glumerulus]] cause LCDD. The exact [[Mechanism (biology)|mechanism]] of increase production of light chains and reason that [[renal]] attract them is unknown. These chains can deposit in all parts of [[Renal|renal glumeruls]] and [[Renal tubular|tubuls]]. | |||
Accumulation of monoclonal [[light chains]] and [[matrix protein]]<nowiki/>s → ↑ quantity and activity of transforming growth factor-beta ([[TGF-beta]]). | Accumulation of monoclonal [[light chains]] and [[matrix protein]]<nowiki/>s → ↑ quantity and activity of transforming growth factor-beta ([[TGF-beta]]). | ||
| Line 31: | Line 33: | ||
* ↑ [[matrix protein]]<nowiki/>s accumulation → compress the [[Glomerular capillaries|glomerular]] capillaryies → [[renal failure]] <ref name="pmid7639331">{{cite journal |vauthors=Zhu L, Herrera GA, Murphy-Ullrich JE, Huang ZQ, Sanders PW |title=Pathogenesis of glomerulosclerosis in light chain deposition disease. Role for transforming growth factor-beta |journal=Am. J. Pathol. |volume=147 |issue=2 |pages=375–85 |date=August 1995 |pmid=7639331 |pmc=1869812 |doi= |url=}}</ref>. | * ↑ [[matrix protein]]<nowiki/>s accumulation → compress the [[Glomerular capillaries|glomerular]] capillaryies → [[renal failure]] <ref name="pmid7639331">{{cite journal |vauthors=Zhu L, Herrera GA, Murphy-Ullrich JE, Huang ZQ, Sanders PW |title=Pathogenesis of glomerulosclerosis in light chain deposition disease. Role for transforming growth factor-beta |journal=Am. J. Pathol. |volume=147 |issue=2 |pages=375–85 |date=August 1995 |pmid=7639331 |pmc=1869812 |doi= |url=}}</ref>. | ||
Besides glumerulus,[[light chain]]<nowiki/>s may accumulate in [[renal tubular]]<nowiki/>→ [[tubular]] casts→ interstitial [[inflammation]]→ [[renal failure]] <ref name="pmid10919389">{{cite journal |vauthors=Herrera GA |title=Renal manifestations of plasma cell dyscrasias: an appraisal from the patients' bedside to the research laboratory |journal=Ann Diagn Pathol |volume=4 |issue=3 |pages=174–200 |date=June 2000 |pmid=10919389 |doi= |url=}}</ref>. | Besides glumerulus,[[light chain]]<nowiki/>s may accumulate in [[renal tubular]]<nowiki/>→ [[tubular]] casts→ interstitial [[inflammation]]→ [[renal failure]] <ref name="pmid10919389">{{cite journal |vauthors=Herrera GA |title=Renal manifestations of plasma cell dyscrasias: an appraisal from the patients' bedside to the research laboratory |journal=Ann Diagn Pathol |volume=4 |issue=3 |pages=174–200 |date=June 2000 |pmid=10919389 |doi= |url=}}</ref>. | ||
- In [[Amyloidosis]]: | |||
[[Amyloid|Amyloids]] (misfolding and aggregation of normally soluble [[Protein|proteins]]) deposit in the [[Nephrons|nephron]]<nowiki/>es and cause [[renal failure]]. | |||
- In [[Fabry's disease]]: | |||
A deficiency of the [[enzyme]] [[Alpha galactosidase|alpha galactosidase A]] causes deposition of [[glycolipid]] in the [[Nephron|nephrone]]<nowiki/>s and cause [[renal failure]]. | |||
- In Fibrillary immuno-tactoid glumerulopathy: | |||
Fibrills (larger than [[amyloid]]<nowiki/>s) deposit in subendothelial and [[mesangium]] of the [[nephron]]<nowiki/>es and cause function impairment. | |||
- In Collagenofibrotic glomerulopathy: | |||
Type III [[Collagen, type III, alpha 1|collagen]] fibers deposit in the subendothelial and [[mesangium]] in the kidney. | |||
== Microscopic Pathology == | == Microscopic Pathology == | ||
On [[Light microscope|light microscop]]<nowiki/>y | On [[Light microscope|light microscop]]<nowiki/>y: | ||
-In LCDD: | |||
* No [[glomerular]] and [[vascular]] abnormality | * No [[glomerular]] and [[vascular]] abnormality | ||
* Some [[tubular]] dilation with flattened [[epithelium]]→ suggest [[Acute tubular insufficiency|acute tubular]] injury | * Some [[tubular]] dilation with flattened [[epithelium]]→ suggest [[Acute tubular insufficiency|acute tubular]] injury | ||
* negative Congo | * Negative Congo Red stain | ||
On [[Electron-micrograph|electron]] microscopy | - In [[Amyloidosis]]: | ||
* | * Typical green [[birefringence]] under [[Polarization|polarized]] light after [[Congo red]] staining (appears in red under normal light) | ||
- In [[Fabry's disease]]: | |||
* [[Hypertrophic]] [[podocytes]] of glomerul, foamy appearing [[Vacuoles|vacuole]]<nowiki/>s and [[Mesangial cells|mesangial]] widening. Vacuolated cells will be seen in [[Periodic acid-Schiff stain|PAS]] stain <ref name="pmid12068025">{{cite journal |vauthors=Alroy J, Sabnis S, Kopp JB |title=Renal pathology in Fabry disease |journal=J. Am. Soc. Nephrol. |volume=13 Suppl 2 |issue= |pages=S134–8 |date=June 2002 |pmid=12068025 |doi= |url=}}</ref>. | |||
- In Fibrillary immuno-tactoid glumerulopathy: | |||
* [[Capillary]] wall thickening, [[matrix]] expansion,[[interstitial]] [[Infiltration (medical)|infiltration]] and [[necrosis]] in [[renal]] [[tubules]] and negative [[Congo red]] stain <ref name="pmid12631361">{{cite journal |vauthors=Rosenstock JL, Markowitz GS, Valeri AM, Sacchi G, Appel GB, D'Agati VD |title=Fibrillary and immunotactoid glomerulonephritis: Distinct entities with different clinical and pathologic features |journal=Kidney Int. |volume=63 |issue=4 |pages=1450–61 |date=April 2003 |pmid=12631361 |doi=10.1046/j.1523-1755.2003.00853.x |url=}}</ref>. | |||
- In Collagenofibrotic glomerulopathy: | |||
* Diffuse increase in the [[Mesangial cells|mesangial]] matrix, [[capillary]] walls widening, and [[collagen]] fibers in the [[glomerular basement membrane]]<ref name="pmid8398640">{{cite journal |vauthors=Gubler MC, Dommergues JP, Foulard M, Bensman A, Leroy JP, Broyer M, Habib R |title=Collagen type III glomerulopathy: a new type of hereditary nephropathy |journal=Pediatr. Nephrol. |volume=7 |issue=4 |pages=354–60 |date=August 1993 |pmid=8398640 |doi= |url=}}</ref>. | |||
On [[Electron-micrograph|electron]] microscopy : | |||
-In LCDD: | |||
* Ground-pepper–like deposits in the [[Mesangial cells|mesangia]]<nowiki/>l and the [[endothelial]] of the [[glomerular basement membrane]]. Also, in [[renal tubule]]<nowiki/>s if there is [[Tubular|tubular involvement]]. | |||
- In [[Amyloidosis]]: | |||
* Endothelium, [[glomerular basement membrane]], and [[podocytes]] thickening <ref name="pmid13617410">{{cite journal |vauthors=SPIRO D |title=The structural basis of proteinuria in man; electron microscopic studies of renal biopsy specimens from patients with lipid nephrosis, amyloidosis, and subacute and chronic glomerulonephritis |journal=Am. J. Pathol. |volume=35 |issue=1 |pages=47–73 |date=1959 |pmid=13617410 |pmc=1934814 |doi= |url=}}</ref>. | |||
- In [[Fabry's disease]]: | |||
* Deposition of glicolipids in [[Lysosomes|lysosome]]<nowiki/>s of [[Podocytes|podocyte]]<nowiki/>s and [[glomerular]] parietal [[Epithelial cell|epithelial]] cells. | |||
- In Fibrillary immuno-tactoid glumerulopathy: | |||
* Predominant [[Fibril|fibri]]<nowiki/>ls in the [[Subepithelial connective tissue graft|subepithelial]] of glomerular capillary. | |||
- In Collagenofibrotic glomerulopathy: | |||
* Deposition of irregular collagenous fibers in the mesangium and subendothelial space of the renal glumerol <ref name="pmid28509277">{{cite journal |vauthors=Aoki T, Hayashi K, Morinaga T, Tomida H, Hishida M, Yamamoto S, Kajiwara N, Tamai H |title=Two brothers with collagenofibrotic glomerulopathy |journal=CEN Case Rep |volume=4 |issue=1 |pages=85–89 |date=May 2015 |pmid=28509277 |pmc=5413714 |doi=10.1007/s13730-014-0145-y |url=}}</ref>. | |||
== Genetics == | == Genetics == | ||
* Fabry's disease is [[X-linked recessive]]. | * Fabry's disease is [[X-linked recessive]]. | ||
* Hereditory types of amyloidosis is autosomal dominant. | * Hereditory types of [[amyloidosis]] is [[autosomal dominant]]. | ||
* There exact genetic association for LCDD, Fibrillary immuno-tactoid glumerulopathy, and Collagenofibrotic glomerulopathy are unknown. | * There exact genetic association for LCDD, Fibrillary immuno-tactoid glumerulopathy, and Collagenofibrotic glomerulopathy are unknown. | ||
==Causes== | ==Causes== | ||
The specific etiology that cause extra production of fibrills and chains in the glomerular depositional diseases is unknown. | The specific etiology that cause extra production or abnormal of fibrills and chains in the glomerular depositional diseases is unknown. | ||
==Differentiating from Other Diseases== | ==Differentiating from Other Diseases== | ||
| Line 60: | Line 98: | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The incidence of LCDD is unknown. Most of the patients are men with the mean age of 58 years <ref name="pmid14655186">{{cite journal |vauthors=Pozzi C, D'Amico M, Fogazzi GB, Curioni S, Ferrario F, Pasquali S, Quattrocchio G, Rollino C, Segagni S, Locatelli F |title=Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors |journal=Am. J. Kidney Dis. |volume=42 |issue=6 |pages=1154–63 |date=December 2003 |pmid=14655186 |doi= |url=}}</ref>. | The incidence of glomerular deposition disease depends on the type of the disease. Collagenofibrotic glomerulopathy and Fibrillary immuno-tactoid glumerulopathy are rare. LCDD is unknown. Most of the patients are men with the mean age of 58 years <ref name="pmid14655186">{{cite journal |vauthors=Pozzi C, D'Amico M, Fogazzi GB, Curioni S, Ferrario F, Pasquali S, Quattrocchio G, Rollino C, Segagni S, Locatelli F |title=Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors |journal=Am. J. Kidney Dis. |volume=42 |issue=6 |pages=1154–63 |date=December 2003 |pmid=14655186 |doi= |url=}}</ref>. | ||
[[Renal|Renal involvement]] is the most common cause of [[mortality]] and [[morbidity]] in these patients. [[Survival rate|Survival]] varies between months to 10 years <ref name="pmid11423577">{{cite journal |vauthors=Lin J, Markowitz GS, Valeri AM, Kambham N, Sherman WH, Appel GB, D'Agati VD |title=Renal monoclonal immunoglobulin deposition disease: the disease spectrum |journal=J. Am. Soc. Nephrol. |volume=12 |issue=7 |pages=1482–92 |date=July 2001 |pmid=11423577 |doi= |url=}}</ref>. | [[Renal|Renal involvement]] is the most common cause of [[mortality]] and [[morbidity]] in these patients. [[Survival rate|Survival]] varies between months to 10 years in patients with LCDD <ref name="pmid11423577">{{cite journal |vauthors=Lin J, Markowitz GS, Valeri AM, Kambham N, Sherman WH, Appel GB, D'Agati VD |title=Renal monoclonal immunoglobulin deposition disease: the disease spectrum |journal=J. Am. Soc. Nephrol. |volume=12 |issue=7 |pages=1482–92 |date=July 2001 |pmid=11423577 |doi= |url=}}</ref>. | ||
==Risk Factors== | ==Risk Factors== | ||
There are no established risk factors for | There are no established risk factors for glomerular deposition disease. | ||
==Screening== | ==Screening== | ||
There is insufficient evidence to recommend routine screening for | There is insufficient evidence to recommend routine screening for glomerular deposition disease. | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
| Line 107: | Line 145: | ||
In case of heart involvement: ↓ [[Ejection fraction|EF]], diffuse [[hypokinesia]], left ventricular [[Left ventricular hypertrophy|concentric hypertrophy]], ↓ [[diastolic]] compliance <ref name="pmid26988342">{{cite journal |vauthors=Mohan M, Gokden M, Gokden N, Schinke C |title=A Case of Cardiac Light Chain Deposition Disease in a Patient with Solitary Plasmacytoma |journal=Am J Case Rep |volume=17 |issue= |pages=173–6 |date=March 2016 |pmid=26988342 |pmc=4801155 |doi= |url=}}</ref> | In case of heart involvement: ↓ [[Ejection fraction|EF]], diffuse [[hypokinesia]], left ventricular [[Left ventricular hypertrophy|concentric hypertrophy]], ↓ [[diastolic]] compliance <ref name="pmid26988342">{{cite journal |vauthors=Mohan M, Gokden M, Gokden N, Schinke C |title=A Case of Cardiac Light Chain Deposition Disease in a Patient with Solitary Plasmacytoma |journal=Am J Case Rep |volume=17 |issue= |pages=173–6 |date=March 2016 |pmid=26988342 |pmc=4801155 |doi= |url=}}</ref> | ||
* Ultrasound: | * Ultrasound: | ||
No | No findings associated with renal Glomerular deposition diseases. | ||
===CT scan=== | ===CT scan=== | ||
* In severe cases the size of the organ will ↑. | * In severe cases the size of the organ will ↑. | ||
* No [[pathognomonic]] and specific finding associated with | * No [[pathognomonic]] and specific finding associated with Glomerular deposition diseases. | ||
===MRI=== | ===MRI=== | ||
* In severe cases the size of the organ will ↑. | * In severe cases the size of the organ will ↑. | ||
* No [[pathognomonic]] and specific finding associated with | * No [[pathognomonic]] and specific finding associated with Glomerular deposition diseases. | ||
===Other Imaging Findings=== | ===Other Imaging Findings=== | ||
There are no other imaging findings associated with | There are no other imaging findings associated with Glomerular deposition diseases. | ||
===Other Diagnostic Studies=== | ===Other Diagnostic Studies=== | ||
There are no other diagnostic studies associated with | There are no other diagnostic studies associated with Glomerular deposition diseases. | ||
== Treatment == | == Treatment == | ||
'''Medical therapy:''' | '''Medical therapy:''' | ||
70% of cases without therapy will have [[ESRD]]. There is no standard treatment for | 70% of cases without therapy will have [[ESRD]]. There is no standard treatment for Glomerular deposition diseases. Medical therapy options for LCDD are: | ||
* Symptomatic treatment for [[Renal dysfunction|renal dysfunctio]]<nowiki/>n like [[Angiotensin Converting Enzyme Inhibitor|ACE inhibitors]] | * Symptomatic treatment for [[Renal dysfunction|renal dysfunctio]]<nowiki/>n like [[Angiotensin Converting Enzyme Inhibitor|ACE inhibitors]] | ||
| Line 138: | Line 176: | ||
===Primary Prevention=== | ===Primary Prevention=== | ||
There are no established measures for the primary prevention of | There are no established measures for the primary prevention of Glomerular deposition diseases. | ||
===Secondary Prevention=== | ===Secondary Prevention=== | ||
There are no established measures for the secondary prevention of | There are no established measures for the secondary prevention of Glomerular deposition diseases. | ||
==References== | ==References== | ||
Revision as of 19:15, 11 June 2018
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2], Aida Javanbakht, M.D.
Synonyms and keywords: light chain deposition disease
Overview
Localized deposition of fibrils and proteins in glumerole is called glomerular deposition disease.
Light chain deposition disease (LCDD) is one of the glomerular deposition disease. It's a rare blood cell disease which is characterized by deposition of fragments of infection-fighting immunoglobulins, called light chains, in the body. These light chain deposits damage organs and cause disease. The kidneys are almost always affected and this often leads to Chronic renal failure. About half of people with light chain deposition disease also have multiple myeloma. Unlike in AL Amyloidosis, in which light chains are laid down in characteristic amyloid deposits, in LCDD, light chains are deposited in non-amyloid granules. Light chains in LCDD are kappa light chains in granular shape[1].
Classification
Glomerular deposition diseases are classified in 5 types of diseases:
- LCDD
- Amyloidosis
- Fabry's disease
- Fibrillary immuno-tactoid glumerulopathy: The diagnosis is based on pathology finding. Infiltration of fibrills make glomerular structures in the kidney. Fibrills are larger than amyloid fibrils. Patients usually asymtomatic but, sometimes have proteinuria and hematuria. Prognosis is poor and ESRD will happen in half of the patients [2].
- Collagenofibrotic glomerulopathy: A rare disease and the diagnosis is based on pathology finding. Type III collagen fibers deposit in the subendothelial and mesangium in the kidney. Negetive with Congo red and thioflavin stains. There is no specific threatment for it[3] .
Pathophysiology
Pathogenesis:
Deposits of abnormal or extra production of proteins, lipids and fibrills in the glomeruls cause glomerular deposition diseases.
-In LCDD:
light chains are small polypeptides produced by B lymphocytes.They are sub units of antibodies. Kappa and Lambda are two types of light chains. Excess production of Kappa chain and accumulation in the renal glumerulus cause LCDD. The exact mechanism of increase production of light chains and reason that renal attract them is unknown. These chains can deposit in all parts of renal glumeruls and tubuls.
Accumulation of monoclonal light chains and matrix proteins → ↑ quantity and activity of transforming growth factor-beta (TGF-beta).
- TGF-beta → inhibit mesangial cell proliferation and ↑ matrix protein production
- ↑ matrix proteins accumulation → compress the glomerular capillaryies → renal failure [4].
Besides glumerulus,light chains may accumulate in renal tubular→ tubular casts→ interstitial inflammation→ renal failure [5].
- In Amyloidosis:
Amyloids (misfolding and aggregation of normally soluble proteins) deposit in the nephrones and cause renal failure.
- In Fabry's disease:
A deficiency of the enzyme alpha galactosidase A causes deposition of glycolipid in the nephrones and cause renal failure.
- In Fibrillary immuno-tactoid glumerulopathy:
Fibrills (larger than amyloids) deposit in subendothelial and mesangium of the nephrones and cause function impairment.
- In Collagenofibrotic glomerulopathy:
Type III collagen fibers deposit in the subendothelial and mesangium in the kidney.
Microscopic Pathology
On light microscopy:
-In LCDD:
- No glomerular and vascular abnormality
- Some tubular dilation with flattened epithelium→ suggest acute tubular injury
- Negative Congo Red stain
- In Amyloidosis:
- Typical green birefringence under polarized light after Congo red staining (appears in red under normal light)
- In Fabry's disease:
- Hypertrophic podocytes of glomerul, foamy appearing vacuoles and mesangial widening. Vacuolated cells will be seen in PAS stain [6].
- In Fibrillary immuno-tactoid glumerulopathy:
- Capillary wall thickening, matrix expansion,interstitial infiltration and necrosis in renal tubules and negative Congo red stain [7].
- In Collagenofibrotic glomerulopathy:
- Diffuse increase in the mesangial matrix, capillary walls widening, and collagen fibers in the glomerular basement membrane[8].
On electron microscopy :
-In LCDD:
- Ground-pepper–like deposits in the mesangial and the endothelial of the glomerular basement membrane. Also, in renal tubules if there is tubular involvement.
- In Amyloidosis:
- Endothelium, glomerular basement membrane, and podocytes thickening [9].
- In Fabry's disease:
- Deposition of glicolipids in lysosomes of podocytes and glomerular parietal epithelial cells.
- In Fibrillary immuno-tactoid glumerulopathy:
- Predominant fibrils in the subepithelial of glomerular capillary.
- In Collagenofibrotic glomerulopathy:
- Deposition of irregular collagenous fibers in the mesangium and subendothelial space of the renal glumerol [10].
Genetics
- Fabry's disease is X-linked recessive.
- Hereditory types of amyloidosis is autosomal dominant.
- There exact genetic association for LCDD, Fibrillary immuno-tactoid glumerulopathy, and Collagenofibrotic glomerulopathy are unknown.
Causes
The specific etiology that cause extra production or abnormal of fibrills and chains in the glomerular depositional diseases is unknown.
Differentiating from Other Diseases
- Amyloidosis
- Diabetic Nephropathy
- IgA Nephropathy
- Fibrillary immuno-tactoid glumerulopathy
- Multiple Myeloma
- Fabry's disease
- Collagenofibrotic glomerulopathy
- Cryoglobulinemia
Epidemiology and Demographics
The incidence of glomerular deposition disease depends on the type of the disease. Collagenofibrotic glomerulopathy and Fibrillary immuno-tactoid glumerulopathy are rare. LCDD is unknown. Most of the patients are men with the mean age of 58 years [1].
Renal involvement is the most common cause of mortality and morbidity in these patients. Survival varies between months to 10 years in patients with LCDD [11].
Risk Factors
There are no established risk factors for glomerular deposition disease.
Screening
There is insufficient evidence to recommend routine screening for glomerular deposition disease.
Natural History, Complications, and Prognosis
Prognostic factors of glomerular deposition diseases at presentation [1]:
- Age
- underlying hematologic disease
- Light chain deposition in other organs
- Renal function
- other medical diseases like diabetic nephropathy
The median time to progression to chronic renal failure in LCDD is 2.7 years. After 5 years, about 37% of patients with LCDD are alive and do not have end stage renal disease.
Diagnosis
Diagnostic Study of Choice
- Complete blood test
- Urine and serum electrophoresis
- Serum and urine immunoglobulin free light chain assays [12]
- Biopsy is the gold standard test
History and Symptoms
All organs can be effected by Glomerular deposition diseases especially in LCDD. Most of the time kidney is involved [13]. Usually patients are asymptomatic in early stages. Symptoms are nonspecific like fatigue and weight loss. Rapidly progressive glomerulonephritis or acute tubulointerstitial nephritis cause renal failure in these patients. Other than the kidneys, liver and heart are the most commonly involved organs. Deposition of light chains in the liver may lead to hepatomegaly, portal hypertension and liver failure. The heart is affected in up to 80% of patients with LCDD, and may cause arrhythmias restrictive cardiomyopathy, cardiomegaly, and congestive heart failure [14].
Physical Examination
- Depends on involvement of the organ you may find organomegaly like hepatomegaly
- Polyneuropathy
Laboratory Findings
- Proteinuria (30-50% of cases have nephrotic syndrome)[15]
- Hematuria (usually microscopic)
- Abnormal liver enzyme ( in case of liver involvement)
Electrocardiogram
Arrhythmia like atrial fibrillation ( in case of heart involvement).
X-ray
There are no pathognomonic and specific x-ray findings associated with LCDD.
Echocardiography or Ultrasound
- Echocardiography:
In case of heart involvement: ↓ EF, diffuse hypokinesia, left ventricular concentric hypertrophy, ↓ diastolic compliance [16]
- Ultrasound:
No findings associated with renal Glomerular deposition diseases.
CT scan
- In severe cases the size of the organ will ↑.
- No pathognomonic and specific finding associated with Glomerular deposition diseases.
MRI
- In severe cases the size of the organ will ↑.
- No pathognomonic and specific finding associated with Glomerular deposition diseases.
Other Imaging Findings
There are no other imaging findings associated with Glomerular deposition diseases.
Other Diagnostic Studies
There are no other diagnostic studies associated with Glomerular deposition diseases.
Treatment
Medical therapy:
70% of cases without therapy will have ESRD. There is no standard treatment for Glomerular deposition diseases. Medical therapy options for LCDD are:
- Symptomatic treatment for renal dysfunction like ACE inhibitors
- Chemotherapy with Bortezomib
- High-dose melphalan in conjunction with autologous stem cell transplantation
- If patient has LCDD and Multiple Myeloma (MM), should receive treatment per MM guideline
Surgery
In case of ESRD→ Kidney transplant
Primary Prevention
There are no established measures for the primary prevention of Glomerular deposition diseases.
Secondary Prevention
There are no established measures for the secondary prevention of Glomerular deposition diseases.
References
- ↑ 1.0 1.1 1.2 Pozzi C, D'Amico M, Fogazzi GB, Curioni S, Ferrario F, Pasquali S, Quattrocchio G, Rollino C, Segagni S, Locatelli F (December 2003). "Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors". Am. J. Kidney Dis. 42 (6): 1154–63. PMID 14655186.
- ↑ Alpers CE, Kowalewska J (January 2008). "Fibrillary glomerulonephritis and immunotactoid glomerulopathy". J. Am. Soc. Nephrol. 19 (1): 34–7. doi:10.1681/ASN.2007070757. PMID 18045849.
- ↑ Nimmagadda S, Mukku K, Devaraju SR, Uppin MS (2017). "Unusual cause of glomerular deposition disease: Collagenofibrotic glomerulopathy". Indian J Nephrol. 27 (1): 62–65. doi:10.4103/0971-4065.179300. PMC 5255993. PMID 28182050.
- ↑ Zhu L, Herrera GA, Murphy-Ullrich JE, Huang ZQ, Sanders PW (August 1995). "Pathogenesis of glomerulosclerosis in light chain deposition disease. Role for transforming growth factor-beta". Am. J. Pathol. 147 (2): 375–85. PMC 1869812. PMID 7639331.
- ↑ Herrera GA (June 2000). "Renal manifestations of plasma cell dyscrasias: an appraisal from the patients' bedside to the research laboratory". Ann Diagn Pathol. 4 (3): 174–200. PMID 10919389.
- ↑ Alroy J, Sabnis S, Kopp JB (June 2002). "Renal pathology in Fabry disease". J. Am. Soc. Nephrol. 13 Suppl 2: S134–8. PMID 12068025.
- ↑ Rosenstock JL, Markowitz GS, Valeri AM, Sacchi G, Appel GB, D'Agati VD (April 2003). "Fibrillary and immunotactoid glomerulonephritis: Distinct entities with different clinical and pathologic features". Kidney Int. 63 (4): 1450–61. doi:10.1046/j.1523-1755.2003.00853.x. PMID 12631361.
- ↑ Gubler MC, Dommergues JP, Foulard M, Bensman A, Leroy JP, Broyer M, Habib R (August 1993). "Collagen type III glomerulopathy: a new type of hereditary nephropathy". Pediatr. Nephrol. 7 (4): 354–60. PMID 8398640.
- ↑ SPIRO D (1959). "The structural basis of proteinuria in man; electron microscopic studies of renal biopsy specimens from patients with lipid nephrosis, amyloidosis, and subacute and chronic glomerulonephritis". Am. J. Pathol. 35 (1): 47–73. PMC 1934814. PMID 13617410.
- ↑ Aoki T, Hayashi K, Morinaga T, Tomida H, Hishida M, Yamamoto S, Kajiwara N, Tamai H (May 2015). "Two brothers with collagenofibrotic glomerulopathy". CEN Case Rep. 4 (1): 85–89. doi:10.1007/s13730-014-0145-y. PMC 5413714. PMID 28509277.
- ↑ Lin J, Markowitz GS, Valeri AM, Kambham N, Sherman WH, Appel GB, D'Agati VD (July 2001). "Renal monoclonal immunoglobulin deposition disease: the disease spectrum". J. Am. Soc. Nephrol. 12 (7): 1482–92. PMID 11423577.
- ↑ Yadav P, Leung N, Sanders PW, Cockwell P (April 2015). "The use of immunoglobulin light chain assays in the diagnosis of paraprotein-related kidney disease". Kidney Int. 87 (4): 692–7. doi:10.1038/ki.2014.333. PMC 4863638. PMID 25296094.
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- ↑ Mohan M, Gokden M, Gokden N, Schinke C (March 2016). "A Case of Cardiac Light Chain Deposition Disease in a Patient with Solitary Plasmacytoma". Am J Case Rep. 17: 173–6. PMC 4801155. PMID 26988342.