Familial occurrence of nodular regenerative hyperplasia of the liver: a report on three families

BACKGROUND/AIMSNodular regenerative hyperplasia of the liver is a histological lesion usually associated with systemic diseases, haematological malignancies, or drugs. Its prognosis depends on portal hypertension, which usually is well tolerated and requires medical management only.PATIENTSThree unrelated families, in which two sibling adult male patients presented with nodular regenerative hyperplasia of the liver, were studied.METHODSComplete clinical charts and liver biopsy specimens were available for all patients. In addition, explanted livers were available for examination for the two transplanted patients.RESULTSThere was no evidence of any of the various clinical situations known to be associated with nodular regenerative hyperplasia of the liver. Portal hypertension was severe, requiring surgical treatment in two cases. Renal lesions were present in three patients. In two patients, progressive evolution to liver atrophy and hepatic failure, associated with renal failure, led to combined liver and renal transplantation.CONCLUSIONSThis report describes the existence of familial cases of nodular regenerative hyperplasia of the liver, occurring without underlying or associated systemic disease, characterised by a poor clinical course and often associated with progressive renal failure.

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Protein-to-creatinine urinary in the early diagnosis of renal injury in canine pyometra

Pesquisa Veterinária Brasileira ◽

10.1590/1678-5150-pvb-5624 ◽

2019 ◽

Vol 39 (3) ◽

pp. 186-191

Author(s):

Marcos C. Sant’Anna ◽

Guilherme F. Martins ◽

Karina K.M.C. Flaiban ◽

Luiz G.C. Trautwein ◽

Maria I.M. Martins

Keyword(s):

Renal Failure ◽

Chronic Renal Failure ◽

Renal Injury ◽

Renal Damage ◽

Systemic Disease ◽

The Other ◽

Control Group ◽

Creatinine Ratio ◽

Renal Lesions ◽

Tubular Cells

ABSTRACT: Kidney disease that affects bitches with pyometra may lead patients to develop chronic renal failure even after pyometra treatment. Therefore, several studies have sought to clarify the gaps in the understanding of the pathogenesis of renal injury in pyometra. Identification of early detection markers for renal damage, which can predict and identify the prognosis of the disease, is very important. Proteinuria analysis can diagnose kidney damage, since proteins such as albumin are not filtered through the glomerulus and those that undergo glomerular filtration are almost completely reabsorbed by tubular cells. The objective of this study was to evaluate whether the urinary protein-to-creatinine ratio (UPC) can detect renal injury in bitches with pyometra before development of azotemia. For this, 44 bitches with pyometra were divided into two groups: bitches with azotemic piometra (A, n=15, creatinine >1.7) and bitches with non-azotemic pyometra (NA, n=29). The two groups were compared to the control group (CG, n=12), which had no signs of systemic disease. All animals underwent blood and urine tests. Leukocytosis was more evident in bitches in the A group than in the other groups. This shows that the inflammatory response may be associated with the pathogenesis of renal injury. The median UPC in bitches with pyometra was significantly higher than in the CG, with a median above the reference values. In conclusion, the UPC can be used in bitches with pyometra to detect renal damage before the development of azotemia. It has been suggested that the UPC of bitches with pyometra should be followed through during the postoperative period so that permanent renal lesions secondary to pyometra can be diagnosed and treated properly before the development of azotemia.

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Mystery called sarcoidosis: Forty-four years follow-up of chronic systemic disease

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1212768s ◽

2012 ◽

Vol 140 (11-12) ◽

pp. 768-771

Author(s):

Vesna Skodric-Trifunovic ◽

Violeta Vucinic ◽

Sanja Simic-Ogrizovic ◽

Ruza Stevic ◽

Mihailo Stjepanovic ◽

...

Keyword(s):

Renal Failure ◽

Acute Inflammation ◽

Kidney Biopsy ◽

Clinical Course ◽

Systemic Disease ◽

Body Weight Loss ◽

Final Diagnosis ◽

Pulmonary Sarcoidosis ◽

Laboratory Findings

Introduction. This is a presentation of a 61-year-old female patient. Since 44 years have passed from the onset of her first symptoms until the final diagnosis of sarcoidosis, this was the reason of our decision to publish the case. Case Outline. During the follow-up period of 44 years the patient had ocassional polymorphic complains, such as adynamia, nausea, abdominal pains, myalgia, arthralgia, body weight loss (8-10 kg) etc. The clinical course was predominated by splenomegaly, hepatitis and arthralgia, and later chronic renal failure also developed. Laboratory findings showed elevated markers of acute inflammation and autoantibodies. The patient was hospitalized in different university internal hospitals (gastroenterology, allergology, rheumatology, nephrology and pulmology). Liver biopsy was performed three times, rectum and kidney biopsy once each and finally bronchoscopy and pulmonary biopsy was done. At last, about 40 years from the onset of the first symptoms, in 2006 the diagnosis of lung sarcoidosis was established. Conclusion. The final diagnosis of spleen sarcoidosis was confirmed by pathologically verified sarcoidosis of the lungs. This case is particularly interesting because of the presence of familial sarcoidosis (the patient?s son also had recurrent pulmonary sarcoidosis).

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Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

Multiple Sclerosis Journal ◽

10.1191/1352458504ms1015oa ◽

2004 ◽

Vol 10 (3) ◽

pp. 266-271 ◽

Cited By ~ 33

Author(s):

B Zakrzewska-Pniewska ◽

M Styczynska ◽

A Podlecka ◽

R Samocka ◽

B Peplonska ◽

...

Keyword(s):

Multiple Sclerosis ◽

Apolipoprotein E ◽

Brain Atrophy ◽

Genetic Factors ◽

Clinical Course ◽

Progression Rate ◽

Disease Course ◽

Familial Cases ◽

Sporadic Cases ◽

The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

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Fulminant Multisystem Non–Langerhans Cell Histiocytic Proliferation With Hemophagocytosis

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-e39-fmnchp ◽

2005 ◽

Vol 129 (2) ◽

pp. e39-e43 ◽

Cited By ~ 2

Author(s):

R. Nagarjun Rao ◽

Chung-che Chang ◽

Nevin Uysal ◽

Kenneth Presberg ◽

Vinod B. Shidham ◽

...

Keyword(s):

Langerhans Cell Histiocytosis ◽

Clinical Course ◽

Langerhans Cell ◽

Variant Form ◽

Malignant Histiocytosis ◽

Unique Case ◽

Multiple Organs ◽

Biopsy Specimens ◽

Extensive Involvement ◽

Erdheim Chester

Abstract Hemophagocytosis (HP), a feature seen in malignant histiocytosis and infection- and lymphoma-associated disorders, has not been previously emphasized in Erdheim-Chester disease (ECD). Generally, ECD is recognized as a rare, systemic, non–Langerhans cell histiocytosis with a variable clinical course. Herein, we describe a unique case of multisystem non–Langerhans cell histiocytic proliferation with a fulminant clinical course (death occurred within 3 months of presentation) that showed prominent HP and extensive involvement of multiple organs, including the lungs, resulting in respiratory failure. Hemophagocytosis led to severe anemia that required transfusion and thrombocytopenia. Antemortem lung and bone marrow biopsy specimens revealed involvement by a histiocytic infiltrate with features highly suggestive of ECD and HP. Furthermore, the autopsy documented the presence of HP and the histiocytic infiltrate in multiple other organs. This case is best categorized as a variant form of ECD. Recognizing this variant has the following important implications: (1) HP may be a marker for fulminant clinical course in ECD, (2) the presence of HP does not exclude a diagnosis of ECD, and (3) ECD should be considered in the differential diagnosis of HP.

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High Prevalence of Hypogonadism in Male Patients with Chronic Renal Failure

10.1210/endo-meetings.2011.part3.p27.p3-215 ◽

2011 ◽

pp. P3-215-P3-215

Author(s):

Walter Reinhardt ◽

Vasili Bouronikou ◽

Sebastian Dolff ◽

Martina Broecker ◽

Klaus Mann ◽

...

Keyword(s):

Renal Failure ◽

Chronic Renal Failure ◽

High Prevalence ◽

Male Patients

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Clinical features of familial juvenile cases of moyamoya disease: analysis of patients treated in a single institute over a 28-year period

Journal of Neurosurgery Pediatrics ◽

10.3171/2013.4.peds12420 ◽

2013 ◽

Vol 12 (2) ◽

pp. 175-180 ◽

Cited By ~ 3

Author(s):

Maki Mukawa ◽

Tadashi Nariai ◽

Yoshiharu Matsushima ◽

Kikuo Ohno

Keyword(s):

Clinical Features ◽

Moyamoya Disease ◽

Mr Angiography ◽

Posterior Cerebral Artery ◽

Clinical Course ◽

Intelligence Scale ◽

Familial Cases ◽

Sporadic Cases ◽

Tokyo Medical ◽

Disease Analysis

Object The authors compared the clinical features between familial and sporadic cases of moyamoya disease (MMD) by retrospectively analyzing data on patients with MMD registered in the database of Tokyo Medical and Dental University over a period of 28 years. Methods In total, 383 patients with hospital records at Tokyo Medical and Dental University from 1980 to 2007 were registered into the database. The data on all of these patients were retrospectively reviewed to clarify the occurrence of familial cases. Clinical features of child or adolescent patients (< 20 years of age) with MMD were compared between familial and sporadic cases in a subgroup of patients who were registered after 1995, initially diagnosed using MR angiography, and assessed using an intelligence scale. Results Familial occurrence was observed in 59 patients (15.4%) in 40 pedigrees. The clinical features of juvenile patients were analyzed in 124 patients, 22 (17.7%) of whom had familial histories. In comparison with the sporadic cases, patients with familial histories were significantly younger at onset (4.7 vs 6.6 years old), had significantly more cortical infarction (59.1% vs 25.5%), and had significantly more stenoocclusive lesions in the posterior cerebral artery (45.4% vs 24.5%). The rate of patients with intellectual disturbance (intelligence quotient < 75) was significantly larger in the familial cases (47.4%) than in the sporadic cases (17.8%). Conclusions This survey of the clinical features of familial MMD suggests that patients with familial MMD had a more serious clinical course in childhood than the sporadic MMD cases.

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THE NEPHROTIC SYNDROME IN THE FIRST YEAR OF LIFE

PEDIATRICS ◽

10.1542/peds.25.6.967 ◽

1960 ◽

Vol 25 (6) ◽

pp. 967-976

Author(s):

R. A. Parker ◽

Carolyn F. Piel

Keyword(s):

Nephrotic Syndrome ◽

Cortical Area ◽

Clinical Course ◽

Renal Pathology ◽

Electrolyte Imbalance ◽

First Year ◽

Renal Lesions ◽

Susceptibility To Infection ◽

First Year Of Life

The clinical course of nephrosis in five infants with onset of disease before 7 months of age is presented, together with evaluation of renal lesions seen at necropsy. The problems of the management of nephrosis susceptibility to infection and water and electrolyte imbalance were found to be exaggerated by the young age of the patients. The renal pathology observed in these five infants consisted of persistence of immature glomeruli and dilatation of the tubules in the cortical area. Later, the immature glomeruli and associated tubules appear to atrophy and the remaining glomeruli to hypertrophy. Long-term adrenocorticosteroid therapy seems to be contraindicated, not only on the basis of the pathologic changes, but because it greatly exaggerates the problems of management and does not effect a remission of the disease.

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Nodular Regenerative Hyperplasia, Blood Disorders and Other Uncommon Diseases Associated with Intrahepatic Portal Hypertension

Portal Hypertension ◽

10.1007/978-4-431-68361-2_26 ◽

1991 ◽

pp. 325-342 ◽

Cited By ~ 2

Author(s):

Kamal G. Ishak

Keyword(s):

Portal Hypertension ◽

Nodular Regenerative Hyperplasia ◽

Blood Disorders

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P0132DIAGNOSIS OF HYPEROXALURIA FROM RENAL BIOPSY

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfaa142.p0132 ◽

2020 ◽

Vol 35 (Supplement_3) ◽

Author(s):

Marwa Omrane ◽

Raja Aoudia ◽

Mondher Ounissi ◽

Nada Sellami ◽

Mouna Jerbi ◽

...

Keyword(s):

Renal Failure ◽

Kidney Disease ◽

Renal Biopsy ◽

Kidney Biopsy ◽

Interstitial Fibrosis ◽

Renal Pathology ◽

Crystal Deposition ◽

Biopsy Specimens ◽

Initial Symptoms ◽

History Of

Abstract Background and Aims Crystal-induced kidney disease refers to kidney injury caused by intratubular crystal deposition. The most common forms of crystalline nephropathy encountered in renal pathology are nephrocalcinosis and oxalate nephropathy. The purpose of our study is to determine the epidemiological and clinical characteristics of hyperoxaluria diagnosed from renal biopsy. Method We retrospectively reviewed all kidney biopsy specimens evaluated at renal pathology laboratory, from 1976 to 2019. The biopsy specimens were received from multiple medical department and medical centers. We studied 8900 biopsy specimens and we were focused on patients whose diagnosis of hyperoxaluria was made from renal biopsy Results We identified 25 cases (15 children and 10 adults) with a sex ratio H / F of 0.9. Mean age at diagnosis was 17.2 years old [4 months-73 years old]. Most patients were offspring of consanguineous mating (14 of 25) with intermarriage of first-degree cousins being the most common pattern. A family history of chronic kidney disease was found in 13 patients: indeterminated nephropathy (n = 6) and renal stone (n = 5) and primary hyperoxaluria (n=2). Among our patients, five had a history of urolithiasis. One patient had a history of chronic diarrhea related to Crohn's disease and one patient had a history of cephalic pancreatectomy and ileal resection. Initial symptoms and signs were dominated by renal failure (n = 25) with mean creatinine of 789.5 μmol / l [306-1832μmol / l], associated with proteinuria in 10 patients and hematuria in 11 patients. Arterial hypertension was present in 4 patients. Oligo anuria was reported in 4 patients without dilation of the urinary excretory pathways. In our patients, the diagnosis of crystalin nephropathy was revealed by renal biopsy. In one case, the diagnosis was made after renal transplant. In 4 cases the diagnosis was made by postmortem kidney biopsy. In all cases, the kidney biopsy specimen showed extensive intratubular crystal deposition and tubulointerstitial mononuclear cell infiltration with features of tubular injury and interstitial fibrosis. Examination of histologic slides showed colorless refractile crystals of polygonal appearance. Multicolored birefringence under polarized light identified these crystals as calcium oxalate. After different investigations (genetic and biological analysis), the diagnosis of hyperoxaluria was confirmed. Hyperoxaluria was primary in 23 patients and secondary in 2 patients. Conclusion Hyperoxaluria is a rare condition, often serious, involving renal prognosis and sometimes life-threatening, especially in early-onset forms. Early diagnosis and treatment should be done as soon as possible to slow the progression to end-stage renal failure. In patients with renal insufficiency, the diagnosis of hyperoxaluria is difficult. Renal biopsy can help when clinical and radiological data are not sufficient.

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