Kidney diseases in dystrophic epidermolysis bullosa: case report

Dystrophic epidermolysis bullosa is a genetic skin disease of which the recessive subtype also named Hallopeau-Siemens is the most severe. It is due to lack of expression of type VII collagen which is essential for dermal anchoring. Severe obstructive uropathies of the urethral and bladder area may occur during the first years of life, in relation to local bullous activity. As in acquired bullous diseases, glomerular complications may occur in the dystrophic form during the second and third decade. They consist mostly in AA amylosis or mesangial immunoglobuline A glomerulonephritis, in relation to chronic inflammation and repeated cutaneous infections. End stage renal failure occurs in most cases. Only haemodialysis was used as suppletive treatment in four patients for a short period.     

Rhabdomyolysis, acute renal failure, and multiple focal neuropathies after drinking alcohol soaked with centipede

Many Chinese like to drink alcohol soaked with creatures for promoting health. This study reports a 49-year-old male who presented with multiple focal neuropathies of the upper limbs, coagulopathy, erythematous swelling of the bilateral upper extremities and trunk with bullous skin lesions, and rhabdomyolysis associated with acute renal failure after drinking alcohol soaked with centipede. Soaking a centipede, Scolopendra subspinipes mutilans, in 53% alcohol, produced the wine. Supportive treatment was administered, and the skin lesions and renal failure improved with subsequent neurologic deficit during the week following initial presentation. Alcohol binge or immobilization was the likely cause of neuropathy, bullous skin lesions and rhabdomyolysis in the patient. However, there is a possibility that centipede venom also contributed to the illness in this patient.     

Rhabdomyolysis,Acute Renal Failure,and Multiple Focal Neuropathies After Drinking Alcohol Soaked with Centipede

Many Chinese like to drink alcohol soaked with creatures for promoting health. This study reports a 49‐year‐old male who presented with multiple focal neuropathies of the upper limbs, coagulopathy, erythematous swelling of the bilateral upper extremities and trunk with bullous skin lesions, and rhabdomyolysis associated with acute renal failure after drinking alcohol soaked with centipede. Soaking a centipede, Scolopendra subspinipes mutilans, in 53% alcohol, produced the wine. Supportive treatment was administered, and the skin lesions and renal failure improved with subsequent neurologic deficit during the week following initial presentation. Alcohol binge or immobilization was the likely cause of neuropathy, bullous skin lesions and rhabdomyolysis in the patient. However, there is a possibility that centipede venom also contributed to the illness in this patient.     

Normotensive scleroderma renal crisis: Case report and review of the literature

A 58 year old man presented with skin manifestations of scleroderma without systemic involvement. Within few weeks of oral corticosteroids and penicillamine therapy, rapidly progressive systemic sclerosis developed. The deterioration manifested by skin lesions, douse interstitial restrictive lung disease, acute renal failure with normal blood pressure values, and microangiopathic hemolytic anemia compatible with hemolytic uremic syndrome. Chronic renal failure developed and was treated by dialysis, but the patient died due to sepsis. The course of renal involvement was normotensive; antihypertensive therapy was not prescribed even once.

The association of scleroderma renal crisis with normal blood pressure is probably a rare and ominous combination.     

Lepromatous leprosy in a kidney transplant recipient: a case report

Leprosy is a chronic granulomatous disease of the skin and peripheral nerves caused by Mycobacterium leprae. Among mycobacterial infections, leprosy is rare in renal transplant recipients. Here, we report the manifestations of lepromatous leprosy in a 41-year-old renal transplant recipient. Before the renal transplant, the patient had recurrent bullous lesions on his extremities with no systemic complaints. He was on an immunosuppressive regimen that included prednisolone (1 mg/kg/d), cyclosporine (6 mg/kg), and mycophenolate mofetil (2000 mg/d), and had 2 serologically confirmed acute episodes of cytomegalovirus infection that responded favorably to intravenous ganciclovir. The density of his bullous skin lesions decreased after renal transplant. During his regular posttransplant visits, we noticed a decrease in his eyebrow hairs on their lateral margins bilaterally. Later, he developed generalized, symmetric, erythematous papules. With a positive acid-fast bacilli with Fite staining, the results of a skin biopsy showed diffuse foamy histiocyte infiltration in the dermis. These findings are compatible with lepromatous leprosy. After antileprosy therapy, no deterioration of renal allograft function or lepra reactions was noted in a 4-month follow-up. Clinicians should consider leprosy in the differential diagnosis of skin lesions in immunocompromised hosts, and in particular, solid organ transplant recipients in endemic areas.     

Bullous pemphigoid after liver transplantation for liver failure.

Coomb's positive autoimmune hemolytic anemia with giant cell hepatitis (GCH) is a rare cause of liver failure and is usually associated with poor prognosis. A child with liver kidney microsomal (LKM) antibody positivity underwent successful liver transplantation for liver failure secondary to GCH with Coomb's positive hemolytic anemia. Autoimmune neutropenia developed ten months after transplant. Four months later, pemphigoid skin lesions developed. The diagnosis of bullous pemphigoid (BP) was made on the basis of skin biopsy, direct and indirect immunofluorescence test results. Treatment was with immunosuppressants - prednisone and azathioprine/rapamycin, with addition of dapsone when lesions persisted. This child is unique in that his liver function and hemolytic anemia appeared to normalize after liver transplant, but neutropenia and BP both thought to be autoimmune in etiology, developed more than a year post-transplant.     

Association of dominant dystrophic epidermolysis bullosa with end-stage renal failure and hearing loss

A 9-year-old boy with dominant dystrophic epidermolysis bullosa had hematuria. At the age of 14 he had proteinuria and at the age of 19 he had developed end-stage renal failure. Histopathological diagnosis of glomerular lesions was not made. During the course of his illness, high-frequency sensorineural hearing impairment developed and he became completely deaf. The hearing loss was thought to be caused by fradiomycin ototoxicity, as fradiomycin ointment had been used to treat secondary infections of the skin lesions since he was an infant. To our knowledge, an association of dominant dystrophic epidermolysis bullosa with end-stage renal failure and ototoxicity due to fradiomycin ointment have not been reported previously. Received: August 25, 1998 / Accepted: October 22, 1998     

Calciphylaxis in a hemodialysis patient: appearance after parathyroidectomy during a psoriatic flare.

Chronic renal failure patients are prone to soft tissue calcifications. A phenomenon of acute ischemic skin necrosis and dermohypodermic arteriolar medial calcification has been described recently in patients with chronic renal failure and secondary hyperparathyroidism (HPT). This phenomenon, termed calciphylaxis, occurs in response to certain factors, the most important of which appears to be an elevated blood calcium-phosphate product. Accordingly, parathyroidectomy in addition to normalization of calcium-phosphate product has been proposed as the only effective therapeutic approach for this condition. We describe a case of chronic renal failure with severe secondary HPT in which the patient developed calciphylaxis 4 days after the appearance of a psoriatic flare. Four months before, a subtotal parathyroidectomy was performed for severe HPT and at the time the ulcerations appeared, blood calcium-phosphate product was correct. Etiological and physiopathological aspects of calciphylaxis are discussed.     

Safety of older generations of gadolinium in mild-to-moderate renal failure

Nephrogenic systemic fibrosis (NSF) is a rare disease that is mostly reported in patients with chronic kidney disease (CKD) who have received gadolinium as a contrast in imaging techniques. The exact pathogenetic role of renal failure or gadolinium is not known. The aim of this study is to show whether mild-to-moderate renal failure is a risk for NSF as it is described in severe renal failure. In this cross-sectional study, we enrolled 164 patients with serum creatinine levels >1.5 mg/dL who were in different stages of CKD and had received gadolinium (gadopentetate). The average lag time between the gadolinium administration and the study was 4 months. The most prevalent skin symptom was itching (19%) and the least frequent was induration and papules (<1%). At the follow-up, all skin lesions were relieved. No patients had characteristic lesions of NSF. Twenty-five percent of patients had acute kidney injury at the time of gadolinium exposure. No patients had liver disease and only five were receiving erythropoietin. None of our patients were taking immunosuppressive agents, but all of them suffered from cardiovascular diseases. We conclude that in patients with mild-to-moderate renal failure, it seems that gadolinium is associated with no or very low risk for NSF. We did not find any NSF in patients with severe renal failure. However, because of the rarity of NSF, the low number of such patients in the study, and the high mortality, the use of gadolinium in these patients should be avoided.     

Development of bullous pemphigoid during the haemodialysis of a young man: case report and literature survey

Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end‐stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub‐epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria‐like lesions. Usually, BP is an idiopathic disorder; however, in some cases, underlying internal disorders are present, like diabetes or neurological disorders. Herein, we present a 33‐year‐old man with ESRD, maintained on haemodialysis, who developed BP. There are only six cases with BP provoked by the placement of a fistula for haemodialysis. BP in the current patient was confirmed by direct immunofluorescence (DIF) and indirect immunofluorescence using BIOCHIP. The patient responded promptly to tertracycline and 0·05% clobetasol propionate lesionally. However, the relationship between BP and the fistula for haemodialisys still remains unknown. It is highly likely that the skin injury associated with fistula placement was responsible for the alteration of the basement membrane zone (BMZ) and the stimulation of the immune system, leading to BP development. To explain the real role of fistula placement as a provocative factor in BP, other such cases are required for assessment.     

Cell biology of renal osteodystrophy

Renal osteodystrophy, a well-recognized complication of chronic renal failure, encompasses a spectrum of skeletal disorders ranging from high-turnover lesions of secondary hyperparathyroidism, the most common histologic lesion in pediatric patients with end-stage renal disease, to low-turnover lesions of adynamic renal osteodystrophy, which has become a common skeletal lesion in adults with chronic renal failure. Several advances have been made in the understanding of the pathogenesis of secondary hyperparathyroidism, particularly the critical roles of calcium, phosphorus, and vitamin D in promoting excess parathyroid hormone (PTH) synthesis and secretion, and parathyroid gland hyperplasia in renal failure. These insights will guide the development of more effective strategies for the prevention and management of renal bone disease.     

Vesicoureteral reflux and reflux nephropathy

Vesicoureteral reflux is an anatomic abnormality, mostly affecting a pediatric population, which may be the second leading cause of end-stage renal failure. Most cases of reflux are due to abnormalities in the insertion of the ureters into the bladder, either congenital or acquired. Most commonly, VUR is discovered during routine evaluation of urinary tract infections, but may also be present in patients with severe hypertension or chronic renal failure. The diagnosis is confirmed radiologically, utilizing either voiding cinecystography or radioisotopic methods. VUR can result in renal failure through scarring secondary to 'chronic pyelonephritis' or through a glomerulopathy, possibly immune in origin. In most series, the glomerulopathy is felt to be the cause of the end-stage renal failure. Treatment of VUR includes conservative (medical) management with the hope that maturation of the ureterovesical junction will cure reflux. Surgical therapy is reserved for those patients in whom this maturation is not expected to occur or in those whose urinary infections cannot be controlled. In those patients who have developed the glomerulopathy secondary to VUR, surgery may not halt the progression of the renal disease. VUR in a transplanted kidney may result in a higher risk of loss of the graft due to glomerulopathy or chronic rejection.     

Cerebral,myocardial and cutaneous ischemic necrosis associated with calcific emboli from aortic and mitral valve calcification in a patient with end-stage renal disease

We report the case of a 57-year-old diabetic male with chronic renal failure who developed secondary hyperparathyroidism and calcification of mitral and aortic valves and interatrial septum. Multiple ischemic lesions developed in the skin of hands, feet and penis, and in the brain, and these were presumed to be due to septic emboli from cardiac valvular infective endocarditis. Multiple blood cultures were negative, however, and despite antibiotic therapy the patient expired. Autopsy (limited to trunk) demonstrated multiple calcific emboli in the heart and spleen, apparently derived from the prominent calcific deformities in the aortic and mitral valves. These were associated with acute and organizing myocardial infarcts and acute splenic infarcts, suggesting that the multiple ischemic lesions in the brain were also due to calcific emboli. A possible contributory component of infective endocarditis, however, was indicated by postmortem cultures of aortic and mitral valves positive for Enterococcus faecium. Calcific embolism is a rarely recognized but potentially lethal complication of end-stage renal disease, and the clinical diagnosis and the preventive therapeutic options for the control of the product of calcium and phosphate and/or parathyroidectomy should be considered.     

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninety one cases have been reported in the literature to date. We present two new cases and evaluate the association of PA/ EB, its etiopathogenesis and the clinical properties. Case 1: A three-day-old female presented with nonbilious vomiting and bullous lesions 2-3 cm in diameter on the extremities. Abdominal X-ray showed a single air-fluid level in the left upper quadrant. At laparotomy, we found PA and performed a pyloro-pylorostomy. The patient died due to sepsis complication of EB two months after surgery. Case 2: A two-day-old male presented with severe dermal bullous lesions on the trunk, neck and extremities. His stomach was dilated and there was no gas distally. We found PA and performed gastroduodenostomy. Initially, he tolerated the feeding well, but he died due to severe sepsis on the postoperative 23rd day. Almost all neonates born with the PA/EB result in a fatal outcome in the first few years. The complications related to EB are usually the cause of death. Even after successful repair of PA, skin lesions lead to death due to infection.     

Tenth Argentine Congress of Nephrology

Calciphylaxis is usually a fatal condition that develops in a few chronic renal failure patients, and it is characterized by calcifications in subcutaneous arteries, infarcts in skin, and the neighboring subcutis. Calciphylaxis, once considered as a rare condition, has been reported to have an annual incidence of 1% and a prevalence of 4% in dialysis patients. We describe our clinical experience in six end-stage renal disease patients on dialysis that presented with calciphylaxis and died due to sepsis, and review the pathogenesis, epidemiology, clinical and histopathologic features, and treatment of calciphylaxis. Physicians should initially consider the possibility of calciphylaxis in case of development of skin lesions in chronic renal failure patients with impaired calcium, phosphorus, and parathyroid hormone levels. The most important cause of mortality in this condition is infection. Therefore, differential diagnosis of these lesions from systemic vasculitis in their early stages and withdrawal of immunosuppressive therapy that increases the tendency to infections are essential.     

End-stage renal disease in a patient with amyloidosis secondary to acne conglobata.

The clinical profile of a patient with a 15 years' evolution of acne conglobata developing systemic amyloidosis with severe renal involvement is described, and the possible influence of suppurative skin foci surgical excision on the rapid progression to terminal renal failure is discussed. This etiological cause of secondary amyloidosis has rarely been reported as a cause of end-stage renal disease.     

Bullous pemphigoid-associated nephropathy: report of two cases and review of the literature

Bullous pemphigoid has previously been reported in association with a variety of renal lesions. Two additional cases are presented in this report in which the nephropathy preceded the onset of the skin disease: one case with membranous glomerulopathy and one case of renal allograft rejection with concurrent membranous pathology. Both patients had positive immunofluorescence of the skin, typical of bullous pemphigoid. Institution of systemic corticosteroid therapy resulted in a satisfactory clinical response and cessation of the blistering process. These cases and a review of the literature suggest that the occurrence of an immune process involving these two different basement membranes is not merely coincidental. Many cases have been described in which the severity of the skin lesions paralleled that of the renal disease. Although the possibility of multiple distinct autoimmune processes cannot be excluded, anti-basement-zone antibody interactions or allograft rejection-induced immune stimulation are possible unifying mechanisms for the simultaneous skin and renal involvement observed in these two cases.     

Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica

An osteogenic sarcoma of the tibia occurred in an eight-year-old boy with epidermolysis bullosa dystrophica hereditaria (EBDH) (Hallopeau-Siemens type). The patient had had the congenital skin disease since the time of birth. A painful swelling appeared in the proximal portion of his right tibia, which was diagnosed as osteogenic sarcoma on biopsy study. The patient died of massive pulmonary metastases and cachexia four months after the onset of the tumor. Osteogenic sarcoma in a patient with EBDH seems not to have been previously reported. EBDH has been known to be occasionally associated with squamous cell carcinoma. Whether an impairment of the patient's defense mechanism by the chronic skin disease might have enhanced the rapid progression of the associated bone malignancy is unknown.     

Atteintes rénales au cours du déficit en cobalamine C

Cobalamin C deficiency (cblC) is the most common inborn error of vitamin B₁₂ metabolism. This autosomal recessive disease is due to mutations in MMACHC gene, encoding a cyanocobalamin decyanase. It leads to hyperhomocysteinemia associated with hypomethioninemia and methylmalonic aciduria. Two distinct phenotypes have been described : early-onset forms occur before the age of one year and are characterized by a severe multisystem disease associating failure to thrive to neurological and ophthalmological manifestations. They are opposed to late-onset forms, less severe and heterogeneous. CblC deficiency-associated kidney lesions remain poorly defined. Thirty-eight cases have been described. Age at initial presentation varied from a few days to 28 years. Most of the patients presented renal thrombotic microangiopathy (TMA) associated with acute renal failure, and 21 patients presented typical lesions of renal thrombotic microangiopathy on kidney biopsy. Prognosis was poor, leading to death in the absence of treatment, and related to the severity of renal lesions in the early-onset forms. Late-onset disease had better prognosis and most of patients were weaned off dialysis after treatment initiation. We suggest that all the patients with renal TMA be screened for cobalamin metabolism disorder, regardless of age and even in the absence of neurological symptoms, to rapidly initiate the appropriate treatment.     

Acute renal failure in newborn. Case presentation

Acute renal failure in newborn occurs in 6-8%. Using a systematic approach, physicians can determine the cause of acute renal failure in most patients. Renal cortical necrosis is an uncommon cause of acute renal failure, secondary to perinatal asphyxia or severe anemia. We report our first experience in peritoneal dialysis for a newborn with renal injury due to severe bleeding through the umbilical cord.