Reversible nephrotic syndrome secondary to pulmonary hydatid disease

Most patients with pulmonary hydatidosis are children. The disease may be asymptomatic or revealed by unusual events such as a glomerulopathy. An 8-year-old boy from a rural part of Tunisia presented with generalised oedema and macroscopic haematuria. There was no familial history of renal disease. He had a normal blood pressure (100/60 mmHg), and a pleural effusion was detected. Urinalysis showed nephrotic range proteinuria (375 mg/kg/d) and microscopic haematuria. His serum total protein concentration was 40 g/l and his serum albumin was 10 g/l. Renal biopsy showed capillary wall thickening and duplication, and mesangial cell proliferation in the glomeruli, characteristic of mesangiocapillary glomerulonephritis. Renal and abdominal ultrasound images showed increased echogenicity of the kidneys and mild ascites. Radiology revealed three large pulmonary hydatid cysts. The largest cyst occupied the entire right upper lobe and compressed the superior vena cava. Hydatid disease was confirmed by a strongly positive serum enzyme-linked immunosorbent assay (ELISA) for echinococcus. The patient was treated with high protein intake, dipyramidol and captopril; both right lung cysts were resected, followed by the left pulmonary cyst 4 weeks later. Hydatid cyst was confirmed histopathologically. He recovered well, the serum ELISA for echinococcus became negative, and follow-up urine examination and thoracic computerised tomography were normal 6 months after surgery, confirming good renal recovery and absence of pulmonary hydatid disease

Primary hyperoxaluria type 1 in Tunisian children

To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009. The diagnosis was established by quantitative urinary oxalate excretion. In patients with renal impairment, the diagnosis was made by infrared spectroscopy of stones or kidney biopsies. The male-to-female ratio was 1:2. The median age at diagnosis was 5.75 years. About 43% of the patients were diagnosed before the age of five years with initial symptoms dominated by uremia. Four patients were asymptomatic and diagnosed by sibling screenings of known patients. Nephrocalcinosis was present in all the patients; it was cortical in 34%, medullary in 32%, and global in 34%. At diagnosis, 12 (27%) children were in end-stage renal disease. Pyridoxine response, which is defined by a reduction in urine oxalate excretion of 60% or more, was obtained in 27% of the cases. In the majority of patients, the clinical expression of primary hyperoxaluria type 1 was characterized by nephrocal-cinosis, urolithiasis, and renal failure; pyridoxine sensitivity was associated with better outcome

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.

International audienceThe coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations.Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes. At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa.This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling