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1.
G Ital Nefrol ; 41(3)2024 06 28.
Artigo em Italiano | MEDLINE | ID: mdl-38943327

RESUMO

Thrombotic microangiopathies represent a group of particularly serious pathologies that can cause a rapid worsening of renal function, especially in young subjects. Through the clinical case described, we will focus our attention on the clinical and laboratory manifestations of the pathology, on the diagnostics and on the therapies to be used. Recent therapeutic innovations for the treatment of this pathology will also be analysed.


Assuntos
Síndrome Hemolítico-Urêmica Atípica , Cefaleia , Hipertensão , Humanos , Síndrome Hemolítico-Urêmica Atípica/complicações , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Cefaleia/etiologia , Hipertensão/complicações , Hipertensão/etiologia , Masculino , Feminino
2.
G Ital Nefrol ; 40(1)2023 Feb 27.
Artigo em Italiano | MEDLINE | ID: mdl-36883920

RESUMO

IgG4 related renal disease represents a frequent manifestation of the wider IgG4 related disease, a fibroinflammatory disorder with a not fully understood etiology that affects several organs. Through the clinical case presented, we will focus attention on this pathology and on the diagnostic difficulties that may arise, and on the investigations necessary for the diagnosis. Finally, the main therapeutic options will be discussed.


Assuntos
Imunoglobulina G , Nefropatias , Humanos , Rim/patologia , Nefropatias/patologia
3.
G Ital Nefrol ; 39(1)2022 Feb 16.
Artigo em Italiano | MEDLINE | ID: mdl-35191625

RESUMO

Alport syndrome is a hereditary clinical condition characterized by multisystemic changes (sensorineural and ocular deafness) associated with hematuria and proteinuria. Due to its genetic variability and multiple symptoms, it is often diagnosed by chance and too late. The present work focuses on this pathology through a clinical case report. It also mentions the new therapeutic possibilities relating to this disease.


Assuntos
Nefrite Hereditária , Feminino , Hematúria/etiologia , Humanos , Nefrite Hereditária/complicações , Nefrite Hereditária/diagnóstico , Nefrite Hereditária/genética , Proteinúria/etiologia
4.
G Ital Nefrol ; 38(2)2021 Apr 14.
Artigo em Italiano | MEDLINE | ID: mdl-33852224

RESUMO

Multiple myeloma represents one of the main universal oncological diseases. Due to its clinical characteristics, it is often diagnosed only too late, when it has already determined systemic effects; this results in greater therapeutic difficulty and worse prognostic results. Through the clinical case discussed in this article, we want to focus on the often aspecific manifestations of this pathology and on the need for a correct clinical and diagnostic framework. The main renal manifestations secondary to the deposition of immunoglobulins in both the glomerular and tubular areas will also be examined.


Assuntos
Nefropatias , Mieloma Múltiplo , Paraproteinemias , Humanos , Rim , Nefropatias/etiologia , Glomérulos Renais , Mieloma Múltiplo/complicações , Mieloma Múltiplo/diagnóstico , Paraproteinemias/complicações
5.
G Ital Nefrol ; 35(1)2018 Feb.
Artigo em Italiano | MEDLINE | ID: mdl-29390242

RESUMO

BACKGROUND: Lactic acidosis (LA) is the most common form of metabolic acidosis, defined by lactate values greater than 5 mmol/L and pH<7.34. The pathogenesis of LA involves hypoxic causes (type A) and non-hypoxic (type B), often coexisting. Identification and removal of the trigger are mandatory in the therapeutic management of LA. The case: A 38 years-old male patient entered the Emergency Ward for dyspnea, fever, vomiting and hyporexia. An important respiratory distress with hyperventilation due to severe LA was found, together with severe hypoglicemia, without renal impairment. Past medical history unremarkable, except for reported episodic hypoglicemia in the childhood, with fructose "intolerance", without any other data. No evidence of intoxications, septic shock or significant cytolysis. No drugs causing LA. The patient underwent orotracheal intubation, glucose infusion, and continuous haemodiafiltration for 36-hrs. A rapid general improvement was obtained with stabilization of acid-base balance. A diagnosis of fructose-1,6-diphosphatase deficiency was made. It is an autosomical recessive gluconeogenesis abnormality, with recurrent episodes of hypoglicemia and lactic acidosis after fasting, potentially lethal. The therapy is based on avoiding prolonged fasts, glucose infusion, and a specific diet, rich in glucose without fructose intake. CONCLUSIONS: The presence of not-otherwise-explained lactic acidosis in young patients has to place the suspect of an underlying and unknown metabolic derangement; in these cases, the involvement of the nephrologist appears to be pivotal for the differential diagnosis of the abnormalities of the acid-base balance, and for setting the best treatment.


Assuntos
Acidose Láctica/terapia , Deficiência de Frutose-1,6-Difosfatase/diagnóstico , Hemodiafiltração , Acidose Láctica/etiologia , Adulto , Frutose/efeitos adversos , Deficiência de Frutose-1,6-Difosfatase/sangue , Deficiência de Frutose-1,6-Difosfatase/complicações , Deficiência de Frutose-1,6-Difosfatase/dietoterapia , Frutose-Bifosfatase/sangue , Genes Recessivos , Gluconeogênese , Humanos , Hipoglicemia/complicações , Masculino
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