Successful Treatment of Severe Heart Failure in Advanced Diabetic Kidney Disease Using Angiotensin-neprilysin Inhibitors (Sacubitril/Valsartan) - Report of Two Cases with Review of Options in Literature.

Patients with heart failure (HF) and advanced chronic kidney disease (CKD) constitute a special population that experience poor outcomes due to poor adherence to established therapies because of potential safety concerns. Role of newer agents like angiotensin-receptor neprilysin inhibitors (ARNI) in early stages of CKD is well elucidated. We report two cases of HF with reduced ejection fraction, who received ARNI in advanced stage of CKD (stage 5) and achieved remarkable outcomes in terms of quality of life and longevity.

Primary hyperparathyroidism: A changing scenario in India.

INTRODUCTION: Primary hyperparathyroidism (PHPT) is largely a symptomatic disease with varied systemic manifestations, complicated by coexisting Vitamin D (Vit D) deficiency. Increasing awareness, developments in diagnostics, and Vit D supplementation may have an impact on the disease profile of PHPT. METHODS: Clinical, biochemical, and pathological profile of PHPT presenting to a tertiary care center in South India were compared in two groups separated as per the period of presentation (Group A: January 1994-May 2007 - 51 cases and Group B: June 2007-January 2015 - 59 cases). RESULTS: PHPT has remained a disease of female preponderance with similar age of presentation. It is being diagnosed earlier (mean duration of symptoms prior to diagnosis was 38.7 months in Group A, significantly longer than 26 months in Group B). Bone pain and metabolic myopathy were the most common presentations (60%) followed by pathological fracture (16%), renal calculi (13%), and pancreatitis (7%). Pathological fractures have become less frequent. Vit D deficiency is still a widespread co-morbidity. Radionuclide scintigraphy is an effective localizing tool, but ultrasound can be an inexpensive and widely available screening modality. CONCLUSION: PHPT still remains asymptomatic disease of bones and stones, although it is being diagnosed early. Greater awareness, Vit D supplementation, and better diagnostic tools have made it a disease with lesser morbidity and effective cure.

A single arm, prospective, open label, multicentre study for evaluation of efficacy and safety of IV CERA for treatment of chronic renal anaemia in dialysis patients not currently treated with ESA.

INTRODUCTION: CERA, a continuous erythropoietin receptor activator, has reported effective correction of anaemia in international clinical trials. OBJECTIVE: Objective of this study was to evaluate efficacy and safety of CERA in Indian patients who were on dialysis and has not received erythropoiesis stimulating agent (ESA) therapy in last 8 weeks. METHODS: In this open label, single arm, prospective, multi-centre study, 189 patients on dialysis, having Haemoglobin (Hb) between 8 - 10 g/dL and not receiving any ESA for last 8 weeks were included at 14 centers across India. CERA was given intravenous (IV) at the dose of 0.6 microg/kg every two weeks. Primary end point of the study was mean change in Hb concentration from baseline to end of the treatment period (TP) of 16 weeks. RESULTS: Mean change of Hb from baseline to end of TP was 2.11 +/- 1.37 g/dL and 2.08 +/- 1.29 g/dL in intent to treat (ITT) and per protocol (PP) population respectively. Mean time to achieve Hb response was 6.10 +/- 3.87 weeks and 6.16 +/- 3.92 weeks in ITT and PP populations respectively. Out of 68 adverse events (AEs) seen during study period, 33 were serious adverse events (SAEs). As per investigators all SAEs were related to underlying disease and not to the study medication. CONCLUSION: It is concluded that CERA administered once in two weeks in dialysis patients effectively corrected chronic kidney disease (CKD) related anaemia and was well tolerated with no significant untoward effect directly related to drug therapy in Indian population.

Multiple cysts in kidneys: a case report.

Von Hippel-Lindau (VHL) disease, which is an autosomal dominant inherited disease, is characterized by highly vascularized tumors in different organs. We report a 42-year-old male who presented to our hospital with diarrhea and weight loss of six months' duration. Ultrasonography of the abdomen revealed bilateral polycystic kidneys with multiple cystic and solid components as well as polycystic pancreas. A computerized tomography scan of the abdomen revealed bilateral multiple simple and complex renal cysts, cystic lesions in the head and body of the pancreas and a non-enhancing lesion in the left adrenal gland. The features raised the possibility of VHL syndrome and a biopsy of the kidney revealed atypical cells with a suspicion of malignancy. He underwent bilateral nephrectomy and is on maintenance dialysis since then.

Non-hemorrhagic dengue fever with rhabdomyolysis.

Acute kidney injury occurs in 33-50% of patients with rhabdomyolysis and infections remain one of the major contributing factors. The incidence of rhabdomyolysis in non-hemorrhagic dengue virus infection is quite low and may go unnoticed, especially if the presentation is not florid. We report a case of a young male patient, sero-positive for dengue, with no hemorrhagic manifestations or hypotension, who developed rhabdomyolysis complicated by renal failure. The patient eventually needed dialysis support and later recovered fully. Clinicians need to be aware of the occurrence of rhabdomyolysis even in patients without the hemorrhagic manifestations of dengue viral infection and should employ early preventive strategies in such cases.

Transverse myelitis in antiphospholipid antibody negative systemic lupus erythematosus.

Acute transverse myelitis is a well known neurological complication occurring in systemic lupus erythematosus. Many prior studies have shown a link between transverse myelitis and the presence of antiphospholipid antibodies. Earlier theories have linked thrombotic tendency to be the culprit in such manifestations but currently there is evidence to support other causative mechanisms. A case of a young female diagnosed as systemic lupus erythematosus has been reported who presented with acute transverse myelitis and was found to be seronegative for antiphospholipid antibody. It is important to pay heed to and accordingly treat complications like acute transverse myelitis that occur regardless of antiphospholipid antibody positivity in a systemic lupus erythematosus setting.

Acute kidney injury following cardiac surgery.

Acute kidney injury (AKI), a recognized complication of cardiac surgery with cardiopulmonary bypass (CPB) is associated with increased morbidity and mortality (15-30%) with approximately 1% of all the affected patients requiring dialysis. Early detection of AKI would enable intervention before occurrence of irreversible injury and might minimize the morbidity and mortality. Recently developed biomarkers of AKI facilitate its earlier discovery and help assessment of its severity and prognosis. In this article, we review the causes of well-known yet inexplicable association between CPB and AKI, the advances in pathophysiologic basis, the diagnostics and the management options.

17-α-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension.

A 14-year-old girl presented with acute onset quadriparesis and newly detected hypertension. Parental consanguinity, delayed puberty with normal stature form the additional information. Hypokalemia with metabolic alkalosis, low cortisol, high ACTH and FSH pointed to the possibility of CAH with 17α hydroxylase deficiency. 46XX karyotype and high progesterone supported this. Normalization of hypokalemia and hypertension with glucocorticoid treatment confirmed the diagnosis. In summary, the possibility of 17 OHD should be suspected in patients with hypokalemic myopathy, Hypertension and hypogonadism so that appropriate therapy can be implemented.

Clinical profile of distal renal tubular acidosis.

To determine the clinical profile and progression of renal dysfunction in distal renal tubular acidosis (dRTA), we retrospectively studied 96 consecutive cases of dRTA diagnosed at our center. Patients with unexplained metabolic bone disease, short stature, hypokalemia, re-current renal stones, chronic obstructive uropathy or any primary autoimmune condition known to cause dRTA were screened. Distal RTA was diagnosed on the basis of systemic metabolic acidosis with urine pH >5.5 and positive urine anion gap. In those patients who had fasting urine pH >5.5 with normal baseline systemic pH and bicarbonate levels (incomplete RTA), acid load test with ammonium chloride was done. A cause of dRTA could be established in 53 (54%) patients. Urological defect in children (22/44) and autoimmune disease in adults (11/52) were the commonest causes. Hypokalemic paralysis, proximal muscle weakness and voiding difficulty were the common modes of presentation. Doubling of serum creatinine during the study period was noted in 13 out of 27 patients who had GFR <60 mL/min at presentation whereas in only one of the 70 with initial GFR >60 mL/min (P <0.005). In conclusion, urological disorders were the commonest cause of dRTA in children while autoimmune disorders were the commonest asso-ciation in adults. Worse baseline renal function, longer duration of disease and greater frequency of nephrolithiasis/nephrocalcinosis and urological disorders were noted in those who had wor-sening of renal dysfunction during the study period.

The right sided syndrome, congenital absence of kidney and testis.

Unilateral renal agenesis (URA) is a developmental defect associated with ano-malies of the genitourinary system. The associations vary from absence of testis alone to high anorectal anomalies in other patients. We present two interesting patients with URA, encountered recently. Our first case was diagnosed with URA at the age of 11 years, which was detected on sonography, when he presented with pain abdomen. The presence of an epididymal cyst masked the absence of ipsilateral testes leading to delay in the diagnosis. Our second case was diagnosed with URA during the neonatal period when he presented with anorectal agenesis. He underwent abdomino-anal pull-through operation and later clinical course was complicated by recurrent cystitis, secondary vesicoureteral reflux and hydroureteronephrosis of solitary kidney, progressing to chronic kidney disease.

Pregnancy predisposes to rhabdomyolysis due to hypokalemia.

Increased predilection for hypokalemia-induced rhabdomyolysis has been noted in pregnant women. We managed a woman with distal renal tubular acidosis (RTA) with persistent hypokalemia who presented with recurrent rhabdomyolysis in her consecutive pregnancies despite adequate potassium citrate therapy.