Primary Sjö-gren's syndrome presenting with distal, renal tubular acidosis and rhabdomyolysis.

Primary Sjögren's syndrome (PSS) is rare in India. Clinically manifest renal disease in PSS is uncommon and is usually an autoimmune tubulointerstitial nephritis presenting with distal renal tubular acidosis (dRTA) or a urinary concentrating defect. Hypokalemic paralysis due to dRTA in PSS is rare but well documented in medical literature. Rhabdomyolysis as a consequence of hypokalemia in PSS is exceptional. We report a case of PSS with dRTA and rhabdomyolysis causing prolonged respiratory failure and quadriparesis.

Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).

Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure. Two girls born of consanguineous parentage aged 16 and 17 presented to us with renal failure, nephrocalcinosis and bone deformities. On evaluation they were found to have hypomagnesemia, hypercalciuria, increased fractional excretion of magnesium, hypocitraturia, renal failure and elevated PTH. Their parental screening was normal. There were no extra-renal features in them. One sibling had nephrolithiasis and the stone analysis revealed calcium phosphate stones. Both were treated with sodium bicarbonate, thiazides, calcitriol and calcium carbonate. They did not require dialysis during hospital stay. Both of them were treated conservatively. They are on regular outpatient follow up. The primary defect in this syndrome is impaired paracellular reabsorption of magnesium and calcium in the medullary thick ascending limb. Mutations in the PCLN-1gene which encodes for the tight junction protein paracellin -1 is identified as the underlying genetic defect. Ocular abnormalities and deafness are the commonly reported associations. End stage renal failure usually occurs in second to third decade. Renal transplantation is the definite treatment.

Prognostic factors in immunoglobulin-A nephropathy.

AIM: To study the course, identify prognostic factors and a model predictive for development of end stage renal failure (ESRF) in adults with immunoglobulin-A nephropathy (IgA-N). DESIGN: Retrospective cohort. SETTING: Madras Medical College and Government General Hospital, Chennai, Tamil Nadu. PARTICIPANTS: Ninety eight adult patients with diagnosis of primary IgA nephropathy. RESULTS: Out of 98 patient 64 (65.3%) were men. Mean age of presentation was 25.7 years. The predominant renal lesions included nephrotic syndrome in 25 (25.5%), rapidly progressive renal failure and accelerated malignant hypertension in 21 (21.4%) each, chronic renal failure in 13 (13.3%), hypertension in nine (9.2%) haematuria in five (5.1%) and acute renal failure in four (4.1%). Sixty (61%) had renal failure at diagnosis. Age > 25 years, glomerular histology of Hass subclass V and interstitial fibrosis were significant factors. Forty (48.2%) (IR) patients developed ESRF during follow up. Serum creatinine > 5 mg/dl (hazard ratio: 5.37, 95% confidence interval CI 2.49-11.58) Hass-V (3.74, 1.60-8.76), crescents (4.08, 1.52-10.94) and IF (6.15, 2.0-19.0) were associated with disease progression in the multivariate analysis. Five years renal survival (CI) was 38.5% (24.6%-52.3%). Among those with no risk factor, 95% had not reached ESRF by 42 months. The median ESRF-free survival with one, two and three or four risk factors was 65, 16 and four months, respectively. CONCLUSIONS: Serum creatinine > 5 mg/dl, crescents: Hass-V histology and interstitial fibrosis predict the progression to ESRF. Renal biopsies should include a detailed assessment of the tubulointerstitium.