Dramatic Transformation After Burosumab in a Young Boy With X-linked Hypophosphatemia: A Life-Changing Saga.

X-linked hypophosphatemia (XLH), also referred to as vitamin D-resistant rickets or X-linked dominant hypophosphatemic rickets, is a very rare metabolic disorder. Despite its rarity, it is the most common form of genetic rickets. XLH is caused by loss of function mutation in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, resulting in excessive fibroblast growth factor 23 (FGF23) activity. The end result is renal phosphate wasting leading to hypophosphatemia. It is frequently misdiagnosed as nutritional rickets as it mimics clinical manifestations of vitamin D-deficient rickets; however, it remains refractory to vitamin D repletion. The clinical expression can be variable from progressive bowing to severe skeletal and dental abnormalities. Treatment was limited to calcitriol and phosphate supplementation until the emergence of burosumab, a humanized monoclonal antibody against FGF23. We here share our first-hand experience of the use of burosumab in a 14-year-old boy with XLH and how it dramatically improved his quality of life along with the review of the literature regarding XLH and burosumab.

Methamphetamine (N-methylamphetamine)-induced renal disease: underevaluated cause of end-stage renal disease (ESRD).

A 26-year-old Caucasian man with no medical history, except years of oral and intravenous drug abuse, presented with fatigue, shortness of breath, epistaxis and uncontrolled hypertension. He was pale with skin ecchymosis over his thighs and was anaemic, with severe renal failure and metabolic acidosis. Following initial clinical stabilisation of the patient, a renal biopsy was obtained, which showed vascular and glomerular changes consistent with thrombotic microangiopathic injury and advanced glomerulosclerosis. He was treated with antihypertensives and required haemodialysis. He admitted using 'crystal meth' regularly for many years, which is likely responsible for his renal failure. We present the case to illustrate methamphetamine-induced renal disease leading to end-stage renal disease and to bring awareness among practising clinicians, ancillary healthcare workers and public health professionals of this often undervalued cause of renal failure, which can be prevented.

Rare but not beyond care: a young female with altered mental status and seizures.

A 40-year-old Caucasian lady with focal crescentic glomerulonephritis (p-ANCA) demonstrated by kidney biopsy, was treated with intravenous pulse steroids followed by weekly outpatient rituximab infusions (375 mg/m2). Five days after the fourth and final rituximab infusion, she developed headaches, altered mental status and seizures. Upon transfer to our facility, magnetic resonance imaging of the brain revealed cortical white matter changes suggestive of possible progressive multifocal leukoencephalopathy (PML) or posterior reversible encephalopathy syndrome (PRES). She was aggressively treated with antihypertensives, anti-seizure medications, intravenous steroids, plasmapheresis and ventilatory support while awaiting cerebrospinal fluid analysis and polymerase chain reaction on John Cunningham virus DNA. She had a complete recovery and, at 1 year follow up, was found to be doing well. Awareness of potential complications of rituximab therapy, such as PRES or PML is critical in providing appropriate treatment.

Seizures, renal failure and acute respiratory failure: not your typical case of Henoch-Schonlein purpura.

A 30-year-old Caucasian woman with no prior medical history presented with pedal oedema, arthralgias and abdominal pain with diarrhoea, following a respiratory infection. She had mild abdominal tenderness along with a purpuric rash on the extremities and was anaemic. Following initial workup for anaemia and rash, her condition deteriorated with renal impairment, respiratory failure and seizures necessitating ventilatory support, dialysis and steroids. Serologies were negative, and skin biopsy showed leucocytoclastic vasculitis without vascular IgA deposition, and renal biopsy showed subendothelial, mesangial deposits of IgA with C3 indicative of Henoch-Schonlein purpura (HSP). She was treated with steroids, haemodialysis and on 6-month follow-up recovered renal function. We present the case to illustrate that HSP, though rare in adults, can present with multiorgan failure, with renal, pulmonary and central nervous system involvement, and the need for early diagnosis and prompt treatment for rapid clinical recovery.

An intriguing case of anemia and renal failure.

Hydralazine-induced vasculitis is an established autoimmune entity but widely underdiagnosed despite its initial description in 1953. Hydralazine-induced lupus occurs in 5% to 10% of patients and is characterized by fever, arthralgias, rash, anemia, leukopenia, and positive antinuclear antibodies. Renal involvement is rare in drug-induced systemic lupus erythematosus but can occur. Hydralazine may also be associated with an antineutrophil cytoplasmic antibody to complicate the diagnostic evaluation. There are no definitive diagnostic criteria for hydralazine-induced lupus, and diagnosis relies on chronic exposure to high doses of hydralazine with positive antinuclear and antihistone antibodies and classical histopathological findings. We describe a 48-year-old man with fatigue, anemia, and renal failure from hydralazine-mediated lupus with concomitant antineutrophil cytoplasmic antibodies and highlight the importance of medication history and scrupulous interpretation of serologies and biopsy for diagnosis and management of this familiar yet underrecognized disease. Clinicians should analyze the risk of hydralazine-induced adverse effects before initiating therapy and continue clinical vigilance while patients are on hydralazine.

Alport's syndrome and intracranial aneurysm: mere coincidence or undiscovered causal relationship.

A 44-year-old Caucasian man with a history of deceased donor renal transplant for end-stage renal disease from Alport's syndrome (AS), presented with a spontaneous subarachnoid haemorrhage and hydrocephalus. Following an external ventricular drain for the hydrocephalus, a CT angiography revealed a dissection of the left vertebral artery extending into vertebro-basilar junction necessitating a bypass between left occipital artery to left posterior inferior cerebellar artery. He had a posterior fossa Craniectomy, C1 laminectomy and coiling off, of the left vertebral artery. Postprocedure course was prolonged but uneventful with complete recovery and normal renal function 18 months postpresentation. AS, a disease caused by abnormalities in the synthesis of type IV collagen, can cause aneurysms with severe and permanent neurological sequalae. We present a case of AS with intracranial arterial dissection with potential life-threatening consequences and discuss the genetic and molecular basis of AS along with review of the relevant literature.

'Malignant' hypertension from hyperaldosteronism: a case report.

Adrenocortical carcinomas (ACC) are rare with an incidence of 0.7-2 per million population per year and account for only 0.05%-2% of all malignant tumors. While majority of the functional ACC present as Cushing syndrome, recurrent hyperaldosteronism from metastatic ACC is exceedingly rare. We describe a 67-year old female presented with hypertensive urgency & hypokalemia as a result of hyperaldosteronism from an 8-cm right ACC. She underwent a radical right nephrectomy with adrenalectomy that normalized her blood pressure. However, a few years later she presented again with resistant hypertension from hyperaldosteronism, raising the suspicion of recurrence of ACC. A contrast-enhanced CT scan showed a normal left adrenal gland but revealed pulmonary metastases of ACC based on a lung biopsy. Chemotherapy was complicated with side effects leading to refusal of further chemotherapy, henceforth requiring high dose of spironolactone for blood pressure control. Despite curative surgery, metastatic functional ACC should be considered in patients presenting with secondary hypertension from recurrent hyperaldosteronism, due to its high recurrence rate. Besides standard cancer surveillance after a curative surgery, meticulous monitoring of blood pressure is a simple yet crucial way to detect cancer recurrence early.

Scurvy in 2017 in the USA.

Vitamin C deficiency may be common in third-world countries due to malnutrition, but it is currently rare in the USA. Initially, nonspecific symptoms like exhaustion and depression may make this disease difficult to diagnose until classical dermatological manifestations appear. Diagnosis mainly relies on clinical presentation, dietary history to identify risk factors, and dramatic recession of symptoms and signs following vitamin C therapy. Human beings cannot synthesize vitamin C and hence need 90% of vitamin C intake from fruits and vegetables. As a processed carbohydrate-rich diet becomes the staple food, scurvy must be recognized before it becomes potentially fatal. We describe a 65-year-old man with dyspnea, fatigue, anemia, and bleeding diathesis from scurvy and emphasize the importance of dietary history and the critical role of vitamin C in diagnosis and management of this forgotten entity.

Langerhan Cell Histiocytosis: A Rare Disorder With a Rare Presentation.

Langerhans cell histiocytosis (LCH) is a rare disorder most commonly seen in Caucasians of Northern European decent, male, children. The most common presentation is osteolytic bone lesions. A 44-year-old native American presents with diffuse erythematous, scaling lesions. The patient also had pruritus and lymphadenopathy. These lesions were positive for S-100 and CD1a. The patient was started on chemotherapy which improved her symptoms immensely. This was a rare disease with a rare presentation.