Profile and Post-Kidney Retrieval Outcomes in Asymptomatic Kidney Donors With Genetic Mutations in Complement Factors-Related Genes.

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder triggered by various stressors. Most of the time, stressors may not be identified in patients with aHUS. The disease may remain quiescent without manifestation throughout life. BACKGROUND: To assess the outcome of an asymptomatic carrier of genetic mutations of patients with aHUS who had undergone donor kidney retrieval surgery. METHODS: We retrospectively included the patients diagnosed with a genetic abnormality in complement factor H (CHF) or CHF-related (CFHR) genes without manifestation of the aHUS and who had undergone donor kidney retrieval surgery. The data were analyzed with descriptive statistics. RESULTS: Among patients who were the kidney recipients from the prospective donors, 6 donors were screened for genetic mutations in CFH and CFHR genes. Four donors showed positive mutation for CFH and CFHR. The mean age was 54.5 years (range, 50-64 years). After over a year since donor kidney retrieval surgery, all prospective mother donors are alive without aHUS activation and with a normal kidney function on a single kidney. CONCLUSION: Asymptomatic carriers of genetic mutations in CFH and CFHR can be the prospective donors for their first-degree family member who have active aHUS. A genetic mutation in an asymptomatic donor should not be a contraindication for refuting the prospective donor.

Spectrum of Biopsy-proven Native Kidney Disease in Central India.

Spectrum of native renal biopsy reports varies geographically. Here, we tried to determine the prevalence of renal biopsy disorders and compare it with other studies. Retrospective study was performed at Saraswati Kidney Care Center, Nagpur and Jawaharlal Nehru Medical College, Sawangi, India. All the native kidney biopsies from January 2017 to March 2020 were included in the analysis. Demographic details of all the patients were recorded. Renal diseases were classified as glomerular, tubulo-interstitial, predominant vascular involvement and other disease categories. Total 347 native kidney biopsies were performed during the study period. Mean age of the patients at the time of biopsy was 41.41 ± 15.75 years. Majority of patients were males (58.5%). Most common indication for kidney biopsy was nephrotic syndrome (36.3%) followed by nephritic syndrome (19.9%). Among the glomerular diseases (GDs), 69% were primary glomerulopathies and 31% were secondary GDs. Immunoglobulin (IgA) nephropathy (30.85%) was the most common primary GD followed by membranous nephropathy (MN) (26.59%), focal segmental glomerulosclerosis (FSGS) (17.02 %) and minimal change disease (14.36 %). Among secondary glomerulopathies, lupus nephritis was the most common histopathological diagnosis (31.8%) followed by diabetic nephropathy (26.1%), amyloidosis (17%), infection related glomerulonephritis (11.3%), light chain deposition disease (4%) and anti-neutrophil cytoplasmic antibody associated vasculitis (3.4%). In tubulointerstitial disease, 33.3% had acute tubulointerstitial nephritis, whereas each 26.6% had acute tubular injury and cast nephropathy. The most prevalent diagnosis in our only study from central India was IgA nephropathy followed by MN and FSGS. Data analysis at regular intervals helps in understanding the changing trend of prevalence of native kidney disease and also gives understanding of geographical variations.

Clinical and Histopathological Profile of Immunoglobulin A Nephropathy Patients in Central Part of India: A Single-Center Study.

The objective of the study was to assess clinical and histopathological profile of patients who were diagnosed as immunoglobulin A nephropathy (IgAN) on renal biopsy. Medical data were collected for this retrospective study at a single center from patients with biopsy-proven IgAN, from those biopsied between January 2017 and September 2020. A total of 347 renal biopsies were performed during the study. There were 52 patients with primary IgAN who met our inclusion criteria. Males were more commonly affected (61.5%). The mean age at the time of kidney biopsy was 35.26 ± 10.39 years. Hypertension was present in 84.5% of patients. Median serum creatinine and estimated glomerular filtration rate (eGFR) at presentation were 3.58 mg/dL and 15.8 mL/min/1.73 m2, respectively. Mesangial hypercellularity (M1), endocapillary hypercellularity (E1), segmental glomerulosclerosis (S1), tubular atrophy/ interstitial fibrosis (T1/T2), and crescents (C1/C2) were present in 46.2%, 38.5%, 88.5%, 75% and 36.6% of patients respectively. Thrombotic microangiopathy (TMA) and hypertensive vasculopathy were seen in 38.5% and 86.5% of patients respectively. The presence of tubular atrophy (T1/T2), hypertensive vasculopathy, and TMA on renal biopsy was significantly associated with low eGFR at presentation whereas no such correlation could be established with segmental glomerulosclerosis (S1), crescents (C1/C2), mesangial (M1) and endocapillary hypercellularity (E1). The presence of hypertensive vasculopathy and TMA on renal biopsy was associated with poor renal function at presentation. The most common clinical presentation of IgAN was hypertension and so we suggest patients with hypertension should be screened for microscopic dysmorphic hematuria and proteinuria, if present, should undergo a renal biopsy to diagnose this disease in early stages.

Minimal change disease and Kimura's disease responding to tacrolimus therapy.

Kimura's disease (KD) usually presents with a subcutaneous swelling and associated lymphadenopathy in the periauricular area. KD has a tendency to involve the kidneys. Proteinuria is reported in 12%-16% of cases, and around 60%-70% of them develop nephrotic range proteinuria. We are reporting a case of KD which developed around 12 years later in a patient of biopsy-proven steroid responsive minimal change disease. Recurrent swellings of KD and subnephrotic range proteinuria responded to low-dose tacrolimus therapy (0.05 mg/kg).

Widening spectrum of renal involvement in psoriasis: First reported case of C3 glomerulonephritis in a psoriatic patient.

Renal involvement in psoriasis is usually seen as mesangioproliferative glomerulonephritis (GN), IgA nephropathy, and focal segmental glomerulosclerosis. Microscopic hematuria is not uncommon in a patient of psoriasis with above-mentioned disorders. We found C3 GN as a cause when evaluated for macroscopic and persistent microscopic hematuria in a patient of psoriasis.

An initial evaluation of hypokalemia turned out distal renal tubular acidosis secondary to parathyroid adenoma.

Primary hyperparathyroidism (PHPT) usually presents with hypercalcemia related symptoms and signs. Kidneys play an important role in calcium homeostasis. PHPT has been reported to be associated with hyperchloremia, defective urinary acidification, and renal tubular acidosis (RTA). The dysfunction of distal renal tubules is proposed to be secondary to calcium deposition in distal tubules. This case report highlights an initial presentation of parathyroid adenoma as hypokalemia due to distal RTA secondary to medullary nephrocalcinosis.

An uncommon cause of rapidly progressive renal failure in a lupus patient: Pauci-immune crescentic glomerulonephritis.

We report a case of systemic lupus erythematosus (SLE) who presented with rapidly progressive renal failure (RPRF) with positive antinuclear antibody (ANA) and anti-double-stranded DNA (dsDNA) antibody and active urinary sediment in the form of microscopic hematuria and proteinuria. Provisional clinical diagnosis of lupus nephritis was made. Renal biopsy showed pauci-immune crescentic glomerulonephritis, the diagnosis of which was supported by positive serum anti-MPO antibody. Renal biopsy in SLE patients can sometimes reveal varied pathological entities such as antinuclear cytoplasmic antibodies (ANCAs) positive vasculitis, as in our case, which modified our treatment protocol. Thus, in a patient with SLE presenting with RPRF with active urinary sediments, ANCA serology, and renal biopsy with immunofluorescence examination should be performed always.