ABSTRACT
OBJECTIVE: Frasier syndrome is a rare genetic nephropathy characterized by the presence of progressive glomerulopathy with proteinuria associated with male pseudo hermaphroditism. This case study described a picture of a young boy where the clinical suspicion context reminded the Frasier syndrome. To our knowledge, this case is the first described in Haiti. CASE STUDY: This is a 19-year-old young phenotypically male, born with a genital anomaly, was seen on referral at the nephrology/dialysis unit of the internal medicine department of the State University Hospital of Haiti for evaluation and follow-up. Insidious progression of symptoms had occurred over 3 years. Over three months of outpatient follow-up, he had four sets of renal labs drawn, and all showed impaired renal function. At the ultrasound, a bilateral cryptorchidism is described in the inguinal, and presence of functional ovaries with follicles of variable size scattered in the parenchyma. So, in the light of these anamnestic, clinical and paraclinical findings, we concluded to the diagnosis of end-stage renal failure by progressive glomerulopathy in a context of Frasier's syndrome. CONCLUSION: With any clinical picture consisting of genital anomalies at birth, renal symptomatology during childhood and the diagnosis of renal failure during adolescence, rare genetic nephropathies, such as Frasier syndrome must be considered.
ABSTRACT
According to the World Health Organization reports, nowadays burden of chronic kidney diseases (CKD) is well documented. The high prevalence of noncommunicable diseases (NCD) such as hypertension, diabetes, and obesity, which are the main causes of CKD, is a big concern in the world health scenario. These NCD can progress slowly to end-stage renal disease (ESRD) and the low-middle income countries (LMIC) like Haiti are not left unscathed by this worldwide scourge. Several well-known public health issues prevalent in Haiti such as acute diarrheal infections, malaria, tuberculosis, cholera, and acquired immunodeficiency syndrome (AIDS), can also impair the function of the kidney. Dialysis, a form of renal replacement therapy (RRT), represents a life-saving therapy for all patients affected with impaired kidney. In Haiti, few patients have access to health insurance or disability financial support. Considering that seventy-two percent (72%) of Haitians live with less than USD 2 per day, survival with CKD can be quite stressful for them. Data on the weight of the dialysis and its management are scarce. Addressing the need for dialysis in Haiti is an important component in decision-making and planning processes in the health sector. This paper is intended to bring forth discussion on the use of this type of renal replacement therapy in Haiti: the past, the present, and the challenges it presents. We will also make some recommendations in order to manage this serious problem.
