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.

Primary Renal Echinococcosis.

Echinococcosis is a parasitic infection caused by the larval stage of a cestode Echinococcus granulosus and is endemic in sheep farming regions of developing countries. It manifests as hydatid cyst and most commonly is found in liver followed by lungs. Renal hydatid cyst is rare and amounts for 2% of all cases. There are no specific clinical manifestations, and hence diagnosis of renal hydatid disease is missed out easily without imaging. We report a case of 50-year-old female who had 6 months history of lower abdominal pain with hematuria, found to have right renal hydatid cyst on imaging which was treated with right nephrectomy with pre- and post-operative albendazole treatment.

An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level.

Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. To our knowledge, the present case is the first reported case of LCAT deficiency presenting with symptoms related to nephrotic syndrome in a patient with no obvious family history without any corneal deposits and normal HDL-C levels.

Clinical profile of kidney involvement preceding diagnosis of multiple myeloma; a single center experience.

Introduction: The kidneys are involved in significant number of patients with multiple myeloma (MM) who can present with acute or chronic renal failure, nephritic syndrome, non-nephrotic proteinuria or tubular function defects. Objectives: To assess the clinical profile of kidney involvement preceding diagnosis of multiple myeloma Patients and Methods: Renal involvement in 29 cases with MM admitted over an 18-month period to our tertiary care center was retrospectively examined. Diagnosis of MM was confirmed by two or more of the following four features: lytic bone lesions, serum or urine monoclonal peak, Bence-Jones proteinuria, and greater than 20% plasma cells in bone marrow. Results: Renal disease was present in all patients before MM was diagnosed. Non-steroidal anti-inflammatory drugs (NSAIDs) was the most common precipitating factor for acute kidney injury (AKI). All 29 patients received combination chemotherapy of bortezomib, dexamethasone and thalidomide. More than half of the total number of patients did not complete chemotherapy because of death or lost to follow-up. Twenty-two of 29 patients required hemodialysis support. AKI was the most common renal presentation of MM. Four patients with AKI had complete renal recovery. Eleven patients who required hemodialysis support initially later on recovered to non-dialyzable range of renal failure. Seven patients became hemodialysis dependent. Twelve patients died from infection, uremia or hyperkalemia. Nine patients lost to follow up. Remission of MM was seen in 8 patients who completed chemotherapy. Conclusion: In our study AKI is the most common renal presentation preceding the diagnosis of MM. Reversal of renal function was achieved with chemotherapy and high flux hemodialysis in few cases.

Secondary renal amyloidosis in a patient of pulmonary tuberculosis and common variable immunodeficiency.

Common variable immunodeficiency (CVID) usually manifests in the second or third decade of life with recurrent bacterial infections and hypoglobulinemia. Secondary renal amyloidosis with history of pulmonary tuberculosis is rare in CVID, although T cell dysfunction has been reported in few CVID patients. A 40-year-old male was admitted to our hospital with a 3-month history of recurrent respiratory infections and persistent pitting pedal edema. His past history revealed 3 to 5 episodes of recurrent respiratory tract infections and diarrhoea each year since last 20 years. He had been successfully treated for sputum positive pulmonary tuberculosis 8 years back. Laboratory studies disclosed high erythrocyte sedimentation rate (ESR), hypoalbuminemia and nephrotic range proteinuria. Serum immunoglobulin levels were low. CD4/CD8 ratio and CD3 level was normal. C3 and C4 complement levels were normal. Biopsy revealed amyloid A (AA) positive secondary renal amyloidosis. Glomeruli showed variable widening of mesangial regions with deposition of periodic schiff stain (PAS) pale positive of pink matrix showing apple green birefringence on Congo-red staining. Immunohistochemistry was AA stain positive. Immunofluorescence microscopy revealed no staining with anti-human IgG, IgM, IgA, C3, C1q, kappa and lambda light chains antisera. Patient was treated symptomatically for respiratory tract infection and was discharged with low dose angiotensin receptor blocker. An old treated tuberculosis and chronic inflammation due to recurrent respiratory tract infections were thought to be responsible for AA amyloidosis. Thus pulmonary tuberculosis should be considered in differential diagnosis of secondary causes of AA renal amyloidosis in patients of CVID especially in endemic settings.

Kidney transplantation with positive complement-dependent lymphocytotoxicity crossmatch with negative flow crossmatching and Luminexx donor-specific antibodies.

The presence of positive anti-human, globulin-enhanced, complement-dependent cytotoxicity crossmatches (AHG-CDC-XM) generally has been considered as a contraindication to kidney transplantation (KTx). Flow cytometry crossmatch (FCXM) and solid phase antibody screening are most sensitive and specific methods for immunological assessment. The outcome effect of donor-specific antibody (DSA) positive by Luminexx platform and CDCXM negative has been evaluated, but not the outcome of CDCXM positive and DSA negative. This is a case report describing KTx in a patient with pre-transplant positive AHG-CDC-XM but negative FCXM and without detectable DSA by Luminexx single antigen beads. CDCXM, FCXM, DSA were negative after transplantation, and kidney allograft biopsy did not show immune injury with negative C4d. Our report suggests that KTx with positive AHG-CDC-XM can be considered if FCXM and DSA were negative with careful immunological monitoring after transplantation. In our case, the IgM-antibodies were responsible for the positive AHG-CDC-XM result. The patient with positive CDC XM has a good outcome in the absence of DSA. Further work is needed to determine under what circumstances CDCXM positive transplants can be performed with FCXM and DSA negative.

Lead nephropathy due to Sindoor in India.

We report a case of lead nephropathy due to Sindoor treated successfully with steroid, hemodialysis and chelating agent. Diagnosis of lead nephropathy was confirmed by identification of potential sources of lead exposure (Sindoor, 5-10 gm per year for 11 years) indicated by high blood lead level, 95 µg/dL and presence of extrarenal features of lead poisoning (hypertension, anemia, lead line, hyperuricemia). A search for the underlying systemic causes of renal failure yielded no results. A kidney biopsy showed acute or chronic tubule-interstitial nephritis with mesangioproliferative glomerulonephritis with no immune deposit on immunofluorescence consistent with lead nephropathy. He was discharged in good health after psychiatric consultation and continued with oral D-Penicillamine with normal renal function tests and urine output. This case identifies Sindoor as a potential lead exposure among Indians and clinicians should be aware of this risk factor and enquire about it when searching a source of lead exposure in high-risk population.

Successful treatment of severe iron intoxication with gastrointestinal decontamination, deferoxamine, and hemodialysis.

Acute iron poisoning is a common and potentially serious problem in the pediatric population. Early recognition and treatment is crucial for a better outcome and to prevent morbidity and mortality. An 18-year-old female, who had accidental ingestion of 50 tablets of ferrous sulfate (100 mg of elemental iron per 335 mg tablet), 100 mg/kg of elemental iron, developed acute gastrointestinal and neurologic signs of toxicity and severe anion gap metabolic acidosis. The patient had received gastrointestinal decontamination, deferoxamine (DFO) infusion, and hemodialysis (HD) resulting in a decrease in serum iron concentration from 2150 to 160 mcg/dL at 24-h post-ingestion and improved mental status. Our cases demonstrate that HD may assist in decreasing serum iron concentration and improving clinical status in patients with massive overdose and life-threatening toxicity.