HPO |
HP:0012574 |
Mesangial hypercellularity |
"Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain." [Eurenomics:fschaefer, KPMP:arosenberg, PMID:32866505] |
See Figure 3a of PMID:32866505. |
HP:0033231 |
HPO |
HP:0012575 |
Abnormal nephron morphology |
"A structural anomaly of the nephron." [Eurenomics:fschaefer] |
— |
HP:0012210 |
HPO |
HP:0012576 |
Glomerular C3 deposition |
"The presence of complement 3 deposits in the glomerulus." [Eurenomics:ewuehl] |
— |
HP:0030949 |
HPO |
HP:0012577 |
Thin glomerular basement membrane |
"Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs." [HPO:probinson, KPMP:arosenberg, PMID:32866505] |
This finding is demonstrated on renal biopsy. |
HP:0033282 |
HPO |
HP:0012578 |
Membranous nephropathy |
"A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [Eurenomics:fschaefer] |
— |
HP:0000099 |
HPO |
HP:0012579 |
Minimal change glomerulonephritis |
"The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer] |
— |
HP:0000099 |
HPO |
HP:0012580 |
Calcium phosphate nephrolithiasis |
"The presence of calcium- and phosphate-containing calculi (stones) in the kidneys." [HPO:probinson] |
— |
HP:0004724 |
HPO |
HP:0012581 |
Simple renal cyst |
"An isolated cyst of the kidney." [Eurenomics:ewuehl] |
— |
HP:0000107 |
HPO |
HP:0012582 |
Bilateral renal dysplasia |
"A bilateral form of developmental dysplasia of the kidney." [HPO:probinson] |
— |
HP:0000110 |
HPO |
HP:0012583 |
Unilateral renal hypoplasia |
"One sided hypoplasia of the kidney." [Eurenomics:fschaefer] |
— |
HP:0000089 |
HPO |
HP:0012584 |
Bilateral renal hypoplasia |
"Two sided hypoplasia of the kidney." [Eurenomics:fschaefer] |
— |
HP:0000089 |
HPO |
HP:0012585 |
Renal atrophy |
"Atrophy of the kidney." [HPO:probinson] |
— |
HP:0012210 |
HPO |
HP:0012586 |
Bilateral renal atrophy |
"A two-sided form of atrophy of the kidney." [HPO:probinson] |
— |
HP:0012585 |
HPO |
HP:0012587 |
Macroscopic hematuria |
"Hematuria that is visible upon inspection of the urine." [HPO:sdoelken] |
— |
HP:0000790 |
HPO |
HP:0012588 |
Steroid-resistant nephrotic syndrome |
"A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication." [Eurenomics:ewuehl, ORCID:0000-0002-2234-4248, PMID:29910038] |
Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease. |
HP:0000100 |
HPO |
HP:0012589 |
Multidrug-resistant nephrotic syndrome |
"A form of nephrotic syndrome that does not respond to any immunosuppresive treatment." [Eurenomics:ewuehl] |
— |
HP:0000100 |
HPO |
HP:0012590 |
Abnormal urine output |
"An abnormal amount of urine production." [Eurenomics:ewuehl] |
— |
HP:0011036 |
HPO |
HP:0012591 |
Abnormal urinary electrolyte concentration |
"An abnormality in the concentration of electrolytes in the urine." [PMID:25215103] |
— |
HP:0003110 |
HPO |
HP:0012592 |
Albuminuria |
"Increased concentration of albumin in the urine." [Eurenomics:fschaefer] |
— |
HP:0020129 |
HPO |
HP:0012593 |
Nephrotic range proteinuria |
"Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children." [Eurenomics:ewuehl] |
— |
HP:0000093 |
HPO |
HP:0012594 |
Moderate albuminuria |
"The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol)." [Eurenomics:fschaefer, PMID:30571025] |
— |
HP:0012592 |
HPO |
HP:0012595 |
Mild proteinuria |
"Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [Eurenomics:eweuehl] |
— |
HP:0000093 |
HPO |
HP:0012596 |
Moderate proteinuria |
"Moderately increased levels of protein in the urine (500-1000 mg per day in adults)." [Eurenomics:fschaefer] |
— |
HP:0000093 |
HPO |
HP:0012597 |
Heavy proteinuria |
"Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [Eurenomics:ewuehl] |
— |
HP:0000093 |
HPO |
HP:0012598 |
Abnormal urine potassium concentration |
"An abnormal concentration of potassium(1+) in the urine." [Eurenomics:fschaefer] |
— |
HP:0012591 |