We report the case of a patient born in 1961, with no history of consanguinity or lipodystrophic disease.
Six years later, she underwent surgery for an umbilical hernia. At that time, a 2 cm hepatomegaly has been described (without further studies at that time).
At 11 years of age, he was diagnosed with a multinodular goiter, asymptomatic serial controls were performed, operated on in 2002 by airway compression and has since been on hormone replacement therapy.
At 20 years of age, a non-functioning pituitary adenoma was detected; a screening of acromegaly was performed (due to the normal acromegaloid growth test results already presented by the patient).
The cardinal clinical features of diabetes mellitus began in puberty, with an elevation of C-peptide and marked insulin resistance.
The evolution of diabetes from diagnosis was very torpid, requiring high doses of insulin (up to 5 IU/kg), associated with different oral antidiabetics, despite which maintains poor control.
Glycosylated haemoglobin (HbA1c) has been permanently poorly controlled, reaching up to 13%.
It has an important macro- and microangiopathic repercussion, with chronic lower limb ischemia (grade III-IV), presenting multiple phalanx amputations in both feet (2003, 2004, 2007, 2014).
The aim of this study was to determine the degree of mental illness I-II and a marked peripheral neuropathy (diagnosed in 2000) that, over the years, became disabling (year 2008) and compelling to travel in a wheel.
In addition, over the years, the presence of detrusorian hypotonia (attributable to diabetic neuropathy) that conditioned megabladder and recurrent urinary tract and urinary tract infections was evident.
At 38 years of age, liver function tests were abnormal, so in 2002 it was decided to perform liver biopsy and she was diagnosed with Child-Pugh stage A cirrhosis, secondary to esophageal varicella with portal hypertension.
The patient presented with a hydropic episode that resolved with conservative treatment in 2008.
Another associated problem was the onset of leukopenia and thrombocytopenia, which became persistent.
He was assessed by the Hematology Department, who also performed a bone marrow biopsy in 2002, which was catalogued as normal, due to the attribution of this bicausality to the phenomenon of hyperstimulation secondary to portal hypertension.
It was in 2005 that this patient could suffer from Berardinelli-Seip syndrome (from a holistic view of the multiple diseases that the patient could suffer from over the years).
For this reason the genetic study was performed, although unfortunately, for technical reasons it was not possible to sequence exon 4 of the BSCL2 gene.
No mutations were found in the remaining 11 exons.
The conclusion reached was that there was a deletion of this exon.
In spite of this, the diagnosis of Berardinelli-Seip syndrome was established based on the publication of Garg4 in which he established that, although the absence of essential mutation in the above-mentioned genes could not be observed, those patients with generalized body fat.
The patient was referred to our outpatient clinic from the Department of Endocrinology in 2008 for nephrotic proteinuria (up to 6 g/24 h), with full renal function, normal immunology (except discrete elevation of the abdominal sedimentary kidney),
At that time, renal biopsy was not performed and the patient was found to have diabetic nephropathy.
It was decided at this time to block the renin-angiotensin-aldosterone system with ARA-II, and no further studies were performed at this time.
Renal function remained stable until June 2012, when no previous trigger was observed, serum creatinine of 2.8 mg/dl and creatinine clearance of 9 ml/min, with proteinuria of 4 g/24 h.
An IgG kappa and lambda component was detected in serum and urine immunofixation, which was placed in the context of polyclonal gammopathy of uncertain significance.
The diagnostic doubt was then raised between a probable diabetic nephropathy, probable glomerulonephritis and idiopathic medulloproliferative syndrome associated with cirrhosis, Berardin glelli-Seip focal liver disease.
At this time, the possibility of performing a renal biopsy was assessed, which was ruled out given the marked thrombocytopenia and the fact that the therapeutic attitude was not going to be seen, leading to conservative management of the situation.
A recent transthoracic echocardiogram showed myocardial hypertrophy with signs suggestive of nonfatty, compatible with the expected findings in this disease.
He was admitted again in 2013 due to deterioration of renal function, without a clear cause, but with a marked uremic clinic in the form of nausea and vomiting that led him to start renal replacement therapy.
A high-flow swan-neck peritoneal catheter (Fresenius Medical Care®) was implanted surgically by the General Surgery Department without complications.
After one month, the patient started continuous ambulatory peritoneal dialysis with biocompatible solutions and good adaptation and tolerance to the technique.
The dialysis regimen included 3 daily exchanges, one with low concentration glucose, another with icextrine and finally another with amino acids to minimize the possibilities of malnutrition.
Since then, it has presented acceptable Kt/V and adequate volume management, maintaining residual diuresis of about 1,500 cc/day.
The only incidences since the beginning of the technique have been an episode of peritoneal infection by Staphilocococus epidermis resolved with specific AB treatment and amputation of the first toe of the right foot.
