Focal Segmental Glomerular Sclerosis in a Patient With Neurofibromatosis Type I

Gersch, Michael S.; Talor, Zvi

doi:10.1053/j.ajkd.2005.09.017

Cited by 8 publications

(6 citation statements)

References 14 publications

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“…The others include FSGS, IgA nephropathy, and MCN. [789101112] Our patient had presented with nephrotic syndrome and renal biopsy on light microcopy was suggestive of FSGS. IF microscopy showed the presence of fine granular (+3/+4) fluorescence across 70%–80% of the mesangial regions of all glomeruli on staining with anti-human C1q and (+2) with IgG antisera.…”

Section: Discussionmentioning

confidence: 93%

C1q nephropathy in a patient of neurofibromatosis type 1: A rare case report

Varyani

Shah

et al. 2019

Indian J Nephrol

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C1q nephropathy is a rare glomerular disease defined by the presence of characteristic mesangial dominant or codominant C1q deposition on immunofluorescence microscopy. Neurofibromatosis type 1 (NF-1) is an autosomal dominant syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2. Nephrotic syndrome has rarely been reported in patients of NF-1, and the relation of NF-1 with nephrotic syndrome is unclear. Here, we present a rare case of C1q nephropathy in a patient of NF-1.

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Section: Discussionmentioning

confidence: 93%

C1q nephropathy in a patient of neurofibromatosis type 1: A rare case report

Varyani

Shah

et al. 2019

Indian J Nephrol

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“…Even though the genetic link between IgAN and NF-1 is not established, we speculate that the inflammatory response to nephritogenic Gd-IgA1-antiglycan IgG immune complexes in mesangium is enhanced in NF-1 patients due to aberrant mTOR activation. Glomerulonephritis other than IgAN have also been reported in NF-1 patients, including membranous nephropathy, [ 5 , 7 , 23 ] focal segmental glomerulosclerosis, [ 8 – 10 ] immunoglobulin M nephropathy, [ 24 ] C1q nephropathy, [ 25 ] minimal change disease, [ 26 ] and renal amyloidosis [ 26 ] (Table 1 ). Activation of the mTOR pathway in NF-1 patients may increase susceptibility to diverse nephritogenic antigens.…”

Section: Discussionmentioning

confidence: 99%

“…[ 1 , 2 ] Although kidney involvement is rare, it most commonly presents as renal artery stenosis, [ 3 , 4 ] which is reported in less than 1% of cases. [ 3 ] Glomerulonephritis is rare in NF-1 patients; only a few cases of membranous nephropathy [ 5 – 7 ] and focal segmental glomerulosclerosis, [ 8 – 10 ] and 3 of immunoglobulin A nephropathy (IgAN), [ 11 , 12 ] have been reported in NF-1 patients. In this case report, we present the case of a 51-year-old Korean man with NF-1 and IgAN.…”

Section: Introductionmentioning

confidence: 99%

Immunoglobulin A nephropathy in a patient with neurofibromatosis type 1

et al. 2021

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Rationale: Neurofibromatosis type 1 (NF-1) is an autosomal-dominant neurocutaneous disorder that affects the skin, bones, and nervous system. The most common manifestation of kidney involvement is renal artery stenosis; glomerulonephritis is extremely rare. In this case report, we present a patient with NF-1 and immunoglobulin A nephropathy (IgAN). Patient concerns: A 51-year-old Korean man previously diagnosed with NF-1 presented with persistent proteinuria and hematuria identified during a routine medical check-up. He had no history of hypertension or diabetes, and denied a history of alcohol use or smoking. Diagnosis: The contrast-enhanced computed tomography scan revealed normal-sized kidneys and no evidence of renal artery stenosis. On the day of the kidney biopsy, laboratory tests showed a serum creatinine level of 1.1 mg/dL, urine protein/creatinine ratio of 1.3 g/g, and urine red blood cell count of >10 to 15/HPF. The kidney biopsy sample revealed IgAN grade III, according to Lee glomerular grading system. Intervention: The patient was advised to take 4 mg of perindopril. Outcome: Three months after the treatment, the urine protein/creatinine ratio decreased to 0.6 g/g, with no change in the serum creatinine level (1.03 mg/dL). Lessons: A genetic link between NF-1 and IgAN or other glomerular diseases is not established. However, activation of the mTOR pathway may explain this association.

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“…Las descripciones de afectación glomerular en la NF-1 son escasas, e incluyen casos aislados de glomerulosclerosis segmentaria y focal (GSFS) 8 , nefropatía membranosa (NM) 5,9,10 , nefropatía por IgA 11 y enfermedad por cambios mínimos (ECM) 12 .…”

Section: Discussionunclassified